Canonical Allele Identifier: PA916059472
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 370239
ClinVar RCV Id: RCV000411938 RCV002488836
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Tyr1838Cys
CA3852499
NM_170724.3:c.5513A>G