Canonical Allele Identifier: PA916059716
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 528290
ClinVar RCV Id: RCV000633422 RCV000731567 RCV002477389
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Phe2477Cys
CA364419539
NM_170724.3:c.7430T>G