Canonical Allele Identifier: PA916058815
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 266005
ClinVar RCV Id: RCV000256369
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.His491Pro
CA10588926
NM_170724.3:c.1472A>C