Allele Registry

Canonical Allele Identifier: PA224090

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000173921

ClinVar Variation:

96418

HGVS (amino-acid)	Matching Registered Transcripts
NP_619639.3:p.Ser228Gly	CA224089 NM_138694.3:c.682A>G