Canonical Allele Identifier: CA1769199549
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.20130202G= , CM000670.2:g.20130202G= GRCh38
NC_000008.10:g.19987713G= , CM000670.1:g.19987713G= GRCh37
NC_000008.9:g.20031993G= NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_949563.1:n.3408+283G=
XR_949563.2:n.3400+283G=