Canonical Allele Identifier: CA2471090064
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.21282085G= , CM000686.2:g.21282085G= GRCh38
NC_000024.9:g.23443971G= , CM000686.1:g.23443971G= GRCh37
NC_000024.8:g.21853359G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001756079.1:n.213+14070C=