Canonical Allele Identifier: PA913202629
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 594543
ClinVar RCV Id: RCV000729853 RCV002485871
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Arg163Ile
CA138926550
NM_138694.3:c.488G>T