Canonical Allele Identifier: CA308543686
Gene:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41648308T>C , CM000681.2:g.41648308T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
XR_935972.1:n.170+3194A>G