Canonical Allele Identifier: PA234579
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 167492

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Asn727Ser
CA234578
NM_138694.3:c.2180A>G