Canonical Allele Identifier: PA916058994
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 167492

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Asn727Ser
CA234578
NM_170724.3:c.2180A>G