Canonical Allele Identifier: CA1222435239
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.220491639C= , CM000663.2:g.220491639C= GRCh38
NC_000001.10:g.220664981C= , CM000663.1:g.220664981C= GRCh37
NC_000001.9:g.218731604C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_922615.1:n.256-595C=
XR_001737822.1:n.557-595C=