Canonical Allele Identifier: CA1689285040
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.13514454G= , CM000669.2:g.13514454G= GRCh38
NC_000007.13:g.13554079G= , CM000669.1:g.13554079G= GRCh37
NC_000007.12:g.13520604G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001745097.1:n.148-187862G=