Canonical Allele Identifier: PA916058523
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 286684
ClinVar RCV Id: RCV000337196 RCV001004221 RCV001535928 RCV003417901
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Arg92Trp
CA3853985
NM_170724.3:c.274C>T