Canonical Allele Identifier: CA1769199312
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.20130040C= , CM000670.2:g.20130040C= GRCh38
NC_000008.10:g.19987551C= , CM000670.1:g.19987551C= GRCh37
NC_000008.9:g.20031831C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_949563.1:n.3408+121C=
XR_949563.2:n.3400+121C=