Allele Registry

Canonical Allele Identifier: PA2826381124

Gene: HPGD HGNC NCBI

ClinVar Allele:

297792

ClinVar RCV:

RCV000281309

RCV000338632

RCV002520227

RCV002520228

ClinVar Variation:

348201

HGVS (amino-acid)	Matching Registered Transcripts
NP_001243230.1:p.Ser53Arg	CA3142225 NM_001256301.1:c.157A>C CA358812215 NM_001256301.1:c.159T>A CA358812216 NM_001256301.1:c.159T>G