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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:
CA1125817181
Gene:
Linked Data
dbSNP Id:
rs1823955262
gnomAD v3:
9-78753633-TCTAGCCGATGCA-T
gnomAD v4:
9-78753633-TCTAGCCGATGCA-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.78753636_78753647del , CM000671.2:g.78753636_78753647del
GRCh38
NC_000009.11:g.81368552_81368563del , CM000671.1:g.81368552_81368563del
GRCh37
NC_000009.10:g.80558372_80558383del
NCBI36
Search 100 bp 5'
Search 100 bp 3'