Canonical Allele Identifier: PA916059609
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 496884
ClinVar RCV Id: RCV000593640 RCV001479944 RCV003160006 RCV003915687
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Asn2261Ser
CA3852183
NM_170724.3:c.6782A>G