Canonical Allele Identifier: PA2580509705
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1805432
ClinVar RCV Id: RCV002471850

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Asn727Asp
CA364443880
NM_170724.3:c.2179A>G