Canonical Allele Identifier: PA916060056
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 220094
ClinVar RCV Id: RCV000204043 RCV000224330 RCV000242191 RCV001292516
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Val3193Ile
CA348314
NM_170724.3:c.9577G>A