Canonical Allele Identifier: CA2330336217
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.28544546C= , CM000681.2:g.28544546C= GRCh38
NC_000019.9:g.29035453C= , CM000681.1:g.29035453C= GRCh37
NC_000019.8:g.33727293C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_110759.1:n.657-77766G=
XR_243979.1:n.110-51523G=