Allele Registry

Canonical Allele Identifier: PA337274

Gene: PKHD1 HGNC NCBI

ClinVar Allele:

212526

ClinVar RCV:

RCV000197522

RCV003133173

ClinVar Variation:

215967

HGVS (amino-acid)	Matching Registered Transcripts
NP_619639.3:p.Arg909Gln	CA337273 NM_138694.3:c.2726G>A