Canonical Allele Identifier: PA645507923
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 287101
ClinVar RCV Id: RCV000305635

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.His3131Tyr
CA10605667
NM_138694.3:c.9391C>T