Canonical Allele Identifier: CA2817478334
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.22259379A>T , CM000683.2:g.22259379A>T GRCh38
NC_000021.8:g.23631699A>T , CM000683.1:g.23631699A>T GRCh37
NC_000021.7:g.22553570A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001754978.1:n.221+46566A>T