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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:
CA858377630
Gene:
Linked Data
dbSNP Id:
rs1295904965
MyVariant Identifiers:
chr9:g.110855106_110855107insTGGCAAGACTCTCAGC (hg19)
chr9:g.108092825_108092826insTGGCAAGACTCTCAGC (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.108092827_108092842dup , CM000671.2:g.108092827_108092842dup
GRCh38
NC_000009.11:g.110855108_110855123dup , CM000671.1:g.110855108_110855123dup
GRCh37
NC_000009.10:g.109894929_109894944dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_930239.1:n.461-39547_461-39532dup
XR_001746881.1:n.668-39547_668-39532dup
XR_001746882.1:n.668-39547_668-39532dup
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