Canonical Allele Identifier: PA916059581
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 197049
ClinVar RCV Id: RCV000177959 RCV000354123 RCV000857781
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Thr2082Ile
CA202674
NM_170724.3:c.6245C>T