Canonical Allele Identifier: CA1769199319
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.20130042C= , CM000670.2:g.20130042C= GRCh38
NC_000008.10:g.19987553C= , CM000670.1:g.19987553C= GRCh37
NC_000008.9:g.20031833C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_949563.1:n.3408+123C=
XR_949563.2:n.3400+123C=