Allele Registry

Canonical Allele Identifier: PA916059688

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000593964

RCV000860707

RCV003133390

RCV003927931

ClinVar Variation:

500968

HGVS (amino-acid)	Matching Registered Transcripts
NP_733842.2:p.Ile2364Asn	CA3852058 NM_170724.3:c.7091T>A