Canonical Allele Identifier: CA1816081140
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.122395703A= , CM000670.2:g.122395703A= GRCh38
NC_000008.10:g.123407942A= , CM000670.1:g.123407942A= GRCh37
NC_000008.9:g.123477123A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928599.1:n.152+3469T=
XR_928599.3:n.152+3469T=