Canonical Allele Identifier: CA2654731377

Gene:

Linked Data

• gnomAD v4: 21-43168994-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43168994C>A , CM000683.2:g.43168994C>A	GRCh38
NG_009823.1:g.4964C>A

Transcript Alleles

HGVS	Amino-acid Change
XR_001755073.1:n.647+2043G>T