Canonical Allele Identifier: CA1801110247
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89198871A>C , CM000670.2:g.89198871A>C GRCh38
NC_000008.10:g.90211100A>C , CM000670.1:g.90211100A>C GRCh37
NC_000008.9:g.90280216A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_002956667.1:n.178+219173T>G