ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2312672656
Gene:
Linked Data - NCBI & NCI
dbSNP:
1539909
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.71581359T>A , CM000680.2:g.71581359T>A
GRCh38
NC_000018.9:g.69248595T>A , CM000680.1:g.69248595T>A
GRCh37
NC_000018.8:g.67399575T>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001753502.1:n.149+33304T>A
Search 100 bp 5'
Search 100 bp 3'