ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2580603607
Gene:
Linked Data - NCBI & NCI
dbSNP:
12896399
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.92307319G>A , CM000676.2:g.92307319G>A
GRCh38
NC_000014.8:g.92773663G>A , CM000676.1:g.92773663G>A
GRCh37
NC_000014.7:g.91843416G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_944153.1:n.131+2775G>A
Search 100 bp 5'
Search 100 bp 3'