Canonical Allele Identifier: CA2817997013

Gene:

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43168930G>C , CM000683.2:g.43168930G>C	GRCh38
NG_009823.1:g.4900G>C

Transcript Alleles

HGVS	Amino-acid Change
XR_001755073.1:n.647+2107C>G