Allele Registry

Canonical Allele Identifier: PA337384

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000251856

RCV001162836

RCV001545553

RCV003891772

ClinVar Variation:

216820

HGVS (amino-acid)	Matching Registered Transcripts
NP_619639.3:p.Pro3780Ser	CA337383 NM_138694.3:c.11338C>T