Canonical Allele Identifier: CA1704517808
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.46033018C= , CM000669.2:g.46033018C= GRCh38
NC_000007.13:g.46072616C= , CM000669.1:g.46072616C= GRCh37
NC_000007.12:g.46039141C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001745203.1:n.1270-3600C=