Canonical Allele Identifier: PA2830258635
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2628771
ClinVar RCV Id: RCV003420758

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Thr3176Ala
CA138896145
NM_138694.3:c.9526A>G