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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:
CA1120500470
Gene:
Linked Data
gnomAD v3:
9-1787623-G-GACATGCTTAAATAAAAGCTCA
gnomAD v4:
9-1787623-G-GACATGCTTAAATAAAAGCTCA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.1787640_1787641insCTCAACATGCTTAAATAAAAG , CM000671.2:g.1787640_1787641insCTCAACATGCTTAAATAAAAG
GRCh38
NC_000009.11:g.1787640_1787641insCTCAACATGCTTAAATAAAAG , CM000671.1:g.1787640_1787641insCTCAACATGCTTAAATAAAAG
GRCh37
NC_000009.10:g.1777640_1777641insCTCAACATGCTTAAATAAAAG
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001746599.1:n.142+68728_142+68729insCTCAACATGCTTAAATAAAAG
Search 100 bp 5'
Search 100 bp 3'