Canonical Allele Identifier: PA2499297066
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1209762
ClinVar RCV Id: RCV001579058
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Thr3387Ile
CA364437694
NM_138694.3:c.10160C>T