Canonical Allele Identifier: PA2580510391
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2309493
ClinVar RCV Id: RCV002870531
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Lys3194Arg
CA364420762
NM_170724.3:c.9581A>G