Canonical Allele Identifier: PA098206
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 406891
ClinVar RCV Id: RCV000467466 RCV001262841 RCV000681918 RCV003401465 RCV003985354
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Ile222Val
CA3853831
NM_138694.3:c.664A>G