Canonical Allele Identifier: CA2055289478
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.93293077C= , CM000674.2:g.93293077C= GRCh38
NC_000012.11:g.93686853C= , CM000674.1:g.93686853C= GRCh37
NC_000012.10:g.92210984C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_040096.1:n.329+34950G=