Canonical Allele Identifier: CA290274274
Gene:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.37666305T>C , CM000679.2:g.37666305T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
XR_002958135.1:n.243-17866T>C