Allele Registry

Canonical Allele Identifier: PA098223

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000169149

RCV000494184

RCV001291886

RCV001542752

ClinVar Variation:

188813

HGVS (amino-acid)	Matching Registered Transcripts
NP_619639.3:p.Ile2331Lys	CA273991 NM_138694.3:c.6992T>A