Allele Registry

Canonical Allele Identifier: PA645507886

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000336713

RCV000528475

RCV001084453

RCV001844822

RCV003940059

ClinVar Variation:

288719

HGVS (amino-acid)	Matching Registered Transcripts
NP_619639.3:p.Pro2582Ser	CA3851843 NM_138694.3:c.7744C>T