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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:
CA1049292766
Gene:
Linked Data
dbSNP Id:
rs1701575231
gnomAD v3:
3-70577240-CTA-C
gnomAD v4:
3-70577240-CTA-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.70577242_70577243del , CM000665.2:g.70577242_70577243del
GRCh38
NC_000003.11:g.70626393_70626394del , CM000665.1:g.70626393_70626394del
GRCh37
NC_000003.10:g.70709083_70709084del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_940947.1:n.406+1276_406+1277del
XR_001740559.1:n.366+1276_366+1277del
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