Allele Registry

Canonical Allele Identifier: PA245466

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000178381

RCV000406304

RCV001706142

RCV003927661

ClinVar Variation:

197367

HGVS (amino-acid)	Matching Registered Transcripts
NP_619639.3:p.Asn53Ser	CA245465 NM_138694.3:c.158A>G