Canonical Allele Identifier: CA1751305201
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148560804A= , CM000669.2:g.148560804A= GRCh38
NC_000007.13:g.148257896A= , CM000669.1:g.148257896A= GRCh37
NC_000007.12:g.147888829A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928099.1:n.300+7296T=
XR_928100.1:n.433+7296T=