Allele Registry

Canonical Allele Identifier: PA2825909401

Gene: HPGD HGNC NCBI

ClinVar RCV:

RCV000008379

RCV000144084

RCV001781205

ClinVar Variation:

7917

HGVS (amino-acid)	Matching Registered Transcripts
NP_001139288.1:p.Ala140Pro	CA119153 NM_001145816.3:c.418G>C