Canonical Allele Identifier: CA1516971243
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.180047278G= , CM000666.2:g.180047278G= GRCh38
NC_000004.11:g.180968431G= , CM000666.1:g.180968431G= GRCh37
NC_000004.10:g.181205425G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001741480.1:n.513+12275C=
XR_939516.2:n.513+12275C=