Canonical Allele Identifier: PA658807927
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 528291
ClinVar RCV Id: RCV000633423 RCV002483790
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Leu3494Pro
CA364434848
NM_138694.3:c.10481T>C