Canonical Allele Identifier: PA658807869
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 502746
ClinVar RCV Id: RCV000595130 RCV001085949 RCV003420049
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Phe2779Val
CA3851659
NM_138694.3:c.8335T>G