Canonical Allele Identifier: PA658655238
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 441087
ClinVar RCV Id: RCV000509311 RCV000594183 RCV002470891 RCV001844835 RCV002527385
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Ile3309Val
CA3851291
NM_138694.3:c.9925A>G