Canonical Allele Identifier: CA1769199586
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.20130231C= , CM000670.2:g.20130231C= GRCh38
NC_000008.10:g.19987742C= , CM000670.1:g.19987742C= GRCh37
NC_000008.9:g.20032022C= NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_949563.1:n.3408+312C=
XR_949563.2:n.3400+312C=