Canonical Allele Identifier: PA2573305233
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1434134
ClinVar RCV Id: RCV001962371 RCV004042123
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Leu152Val
CA364436393
NM_170724.3:c.454C>G