Allele Registry

Canonical Allele Identifier: PA916070083

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000788612

ClinVar Variation:

636706

HGVS (amino-acid)	Matching Registered Transcripts
NP_619639.3:p.Ile3553Asn	CA364433175 NM_138694.3:c.10658T>A