Canonical Allele Identifier: CA1751305270
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148560883G= , CM000669.2:g.148560883G= GRCh38
NC_000007.13:g.148257975G= , CM000669.1:g.148257975G= GRCh37
NC_000007.12:g.147888908G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928099.1:n.300+7217C=
XR_928100.1:n.433+7217C=