Canonical Allele Identifier: PA2499299876
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1102962
ClinVar RCV Id: RCV001426444

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Glu3166Gln
CA3851382
NM_170724.3:c.9496G>C