Canonical Allele Identifier: CA1751305205
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148560808G= , CM000669.2:g.148560808G= GRCh38
NC_000007.13:g.148257900G= , CM000669.1:g.148257900G= GRCh37
NC_000007.12:g.147888833G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928099.1:n.300+7292C=
XR_928100.1:n.433+7292C=