Allele Registry

Canonical Allele Identifier: PA098244

Gene: PKHD1 HGNC NCBI

ClinVar Allele:

303588

ClinVar RCV:

RCV000390646

RCV000521323

RCV001292483

RCV002502379

RCV003409556

ClinVar Variation:

357423

HGVS (amino-acid)	Matching Registered Transcripts
NP_619639.3:p.Ile2957Thr	CA3851503 NM_138694.3:c.8870T>C