Canonical Allele Identifier: PA916060049
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 377018
ClinVar RCV Id: RCV000444254 RCV000502876 RCV001336942 RCV003418109
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Ile3177Thr
CA3851379
NM_170724.3:c.9530T>C