Canonical Allele Identifier: PA645507929
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 357416
ClinVar RCV Id: RCV000376015

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Val3182Ile
CA3851376
NM_138694.3:c.9544G>A