Canonical Allele Identifier: CA1222435236
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.220491636C= , CM000663.2:g.220491636C= GRCh38
NC_000001.10:g.220664978C= , CM000663.1:g.220664978C= GRCh37
NC_000001.9:g.218731601C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_922615.1:n.256-598C=
XR_001737822.1:n.557-598C=