ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1395818031
Gene:
Linked Data - NCBI & NCI
dbSNP:
10804533
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.117836372T>A , CM000665.2:g.117836372T>A
GRCh38
NC_000003.11:g.117555219T>A , CM000665.1:g.117555219T>A
GRCh37
NC_000003.10:g.119037909T>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001740491.2:n.440-107193A>T
Search 100 bp 5'
Search 100 bp 3'