Allele Registry

Canonical Allele Identifier: PA3057327490

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV004690856

ClinVar Variation:

3336276

HGVS (amino-acid)	Matching Registered Transcripts
NP_619639.3:p.Gln3392Lys	CA3851136 NM_138694.3:c.10174C>A