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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:
CA557560507
Gene:
Linked Data
dbSNP Id:
rs1242894659
gnomAD v2:
5-1392550-ATCACACCCAGCACACCTGCGTGGGAGCCTGGGGAGGGGGACAGG-A
gnomAD v3:
5-1392435-ATCACACCCAGCACACCTGCGTGGGAGCCTGGGGAGGGGGACAGG-A
gnomAD v4:
5-1392435-ATCACACCCAGCACACCTGCGTGGGAGCCTGGGGAGGGGGACAGG-A
MyVariant Identifiers:
chr5:g.1392551_1392594del (hg19)
chr5:g.1392436_1392479del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.1392475_1392518del , CM000667.2:g.1392475_1392518del
GRCh38
NC_000005.9:g.1392590_1392633del , CM000667.1:g.1392590_1392633del
GRCh37
NC_000005.8:g.1445590_1445633del
NCBI36
NG_015885.1:g.57950_57993del
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