Canonical Allele Identifier: PA2580510381
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2139930
ClinVar RCV Id: RCV003052854

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Met3158Thr
CA364420986
NM_170724.3:c.9473T>C