Allele Registry

Canonical Allele Identifier: PA102358

Gene: HGD HGNC NCBI

ClinVar RCV:

RCV000003317

RCV003389011

ClinVar Variation:

3167

2627717

HGVS (amino-acid)	Matching Registered Transcripts
NP_000178.2:p.Arg330Ser	CA277916 NM_000187.4:c.990G>T CA354073338 NM_000187.4:c.990G>C