Canonical Allele Identifier: PA891858329
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 576738

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Arg3620Cys
CA138897075
NM_138694.3:c.10858C>T