Allele Registry

Canonical Allele Identifier: PA916060067

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000265753

RCV001526423

ClinVar Variation:

357415

HGVS (amino-acid)	Matching Registered Transcripts
NP_733842.2:p.Asn3235Lys	CA3851350 NM_170724.3:c.9705T>A CA364420488 NM_170724.3:c.9705T>G