Canonical Allele Identifier: CA2510706056
Gene:

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43168906A>C , CM000683.2:g.43168906A>C GRCh38
NG_009823.1:g.4876A>C

Transcript Alleles

HGVS Amino-acid Change
XR_001755073.1:n.647+2131T>G