Canonical Allele Identifier: PA916059445
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 283652
ClinVar RCV Id: RCV000365257 RCV000725304
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Pro1791Leu
CA501106
NM_170724.3:c.5372C>T