Canonical Allele Identifier: CA1723810379
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87913788G= , CM000669.2:g.87913788G= GRCh38
NC_000007.13:g.87543103G= , CM000669.1:g.87543103G= GRCh37
NC_000007.12:g.87381039G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_927723.1:n.148+113C=
XR_927724.1:n.192+113C=