Canonical Allele Identifier: CA1751305312
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148560941A= , CM000669.2:g.148560941A= GRCh38
NC_000007.13:g.148258033A= , CM000669.1:g.148258033A= GRCh37
NC_000007.12:g.147888966A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928099.1:n.300+7159T=
XR_928100.1:n.433+7159T=