Canonical Allele Identifier: PA916059000
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 288720
ClinVar RCV Id: RCV000549371 RCV000405708 RCV001844823 RCV003910015
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Val732Phe
CA3853307
NM_170724.3:c.2194G>T