Allele Registry

Canonical Allele Identifier: PA102839

Gene: HGD HGNC NCBI

ClinVar Allele:

18204

ClinVar RCV:

RCV000003315

ClinVar Variation:

3165

HGVS (amino-acid)	Matching Registered Transcripts
NP_000178.2:p.Pro230Ser	CA340042 NM_000187.4:c.688C>T