Canonical Allele Identifier: CA2381739127
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.22259264G= , CM000683.2:g.22259264G= GRCh38
NC_000021.8:g.23631584G= , CM000683.1:g.23631584G= GRCh37
NC_000021.7:g.22553455G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001754978.1:n.221+46451G=