Canonical Allele Identifier: CA2817997016

Gene:

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43168979A>C , CM000683.2:g.43168979A>C	GRCh38
NG_009823.1:g.4949A>C

Transcript Alleles

HGVS	Amino-acid Change
XR_001755073.1:n.647+2058T>G