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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA557560515
Gene:
Linked Data
dbSNP Id:
rs1560900634
gnomAD v2:
5-1392588-GGACAGGTCACACCCAGCACACCTGCGTGGGAGCCTGGGGAGGGGGGACAGGTCACACCCAGCACACCTGCGTGGGAGCCTGGGGAGGGC-G
gnomAD v3:
5-1392473-GGACAGGTCACACCCAGCACACCTGCGTGGGAGCCTGGGGAGGGGGGACAGGTCACACCCAGCACACCTGCGTGGGAGCCTGGGGAGGGC-G
gnomAD v4:
5-1392473-GGACAGGTCACACCCAGCACACCTGCGTGGGAGCCTGGGGAGGGGGGACAGGTCACACCCAGCACACCTGCGTGGGAGCCTGGGGAGGGC-G
MyVariant Identifiers:
chr5:g.1392589_1392677del (hg19)
chr5:g.1392474_1392562del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.1392499_1392587del , CM000667.2:g.1392499_1392587del
GRCh38
NC_000005.9:g.1392614_1392702del , CM000667.1:g.1392614_1392702del
GRCh37
NC_000005.8:g.1445614_1445702del
NCBI36
NG_015885.1:g.57867_57955del
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