Canonical Allele Identifier: PA2580500779
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1903729
ClinVar RCV Id: RCV002586577

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Val3508Ile
CA3851060
NM_138694.3:c.10522G>A