Allele Registry

Canonical Allele Identifier: PA916059705

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000082569

RCV001004196

RCV002272061

ClinVar Variation:

96419

HGVS (amino-acid)	Matching Registered Transcripts
NP_733842.2:p.Ile2427Thr	CA224091 NM_170724.3:c.7280T>C