Canonical Allele Identifier: CA1816081258
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.122395970A= , CM000670.2:g.122395970A= GRCh38
NC_000008.10:g.123408209A= , CM000670.1:g.123408209A= GRCh37
NC_000008.9:g.123477390A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928599.1:n.152+3202T=
XR_928599.3:n.152+3202T=