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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:
CA918534879
Gene:
Linked Data
dbSNP Id:
rs1564460395
gnomAD v3:
9-111236670-GA-G
gnomAD v4:
9-111236670-GA-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.111236674del , CM000671.2:g.111236674del
GRCh38
NC_000009.11:g.113998954del , CM000671.1:g.113998954del
GRCh37
NC_000009.10:g.113038775del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_930247.1:n.476+36142del
XR_930248.1:n.556+36142del
XR_930249.1:n.476+36142del
XR_001746893.1:n.476+36142del
XR_001746894.1:n.476+36142del
XR_930247.2:n.476+36142del
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