Canonical Allele Identifier: PA916059002
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 262394
ClinVar RCV Id: RCV000254512 RCV000725680 RCV001086206 RCV003891982
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Ala748Val
CA3853298
NM_170724.3:c.2243C>T