Allele Registry

Canonical Allele Identifier: PA645498043

Gene: HPGD HGNC NCBI

ClinVar Allele:

297792

ClinVar RCV:

RCV000281309

RCV000338632

RCV002520227

RCV002520228

ClinVar Variation:

348201

HGVS (amino-acid)	Matching Registered Transcripts
NP_000851.2:p.Ser174Arg	CA3142225 NM_000860.6:c.520A>C CA358812215 NM_000860.6:c.522T>A CA358812216 NM_000860.6:c.522T>G