Canonical Allele Identifier: CA1222435248
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.220491651C= , CM000663.2:g.220491651C= GRCh38
NC_000001.10:g.220664993C= , CM000663.1:g.220664993C= GRCh37
NC_000001.9:g.218731616C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_922615.1:n.256-583C=
XR_001737822.1:n.557-583C=