Canonical Allele Identifier: CA1740470048
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.124306171G= , CM000669.2:g.124306171G= GRCh38
NC_000007.13:g.123946225G= , CM000669.1:g.123946225G= GRCh37
NC_000007.12:g.123733461G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_002956584.1:n.73-307G=