Canonical Allele Identifier: PA916058612
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 199185
ClinVar RCV Id: RCV000180702 RCV000633437 RCV001810434 RCV001844818 RCV003917687
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Glu218Lys
CA248265
NM_170724.3:c.652G>A