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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:
CA112977481
Gene:
Linked Data
dbSNP Id:
rs764633201
gnomAD v2:
5-1454520-AT-A
gnomAD v3:
5-1454405-AT-A
gnomAD v4:
5-1454405-AT-A
MyVariant Identifiers:
chr5:g.1454521del (hg19)
chr5:g.1454406del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.1454406del , CM000667.2:g.1454406del
GRCh38
NC_000005.9:g.1454521del , CM000667.1:g.1454521del
GRCh37
NC_000005.8:g.1507521del
NCBI36
Search 100 bp 5'
Search 100 bp 3'