Canonical Allele Identifier: PA916058975
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 357445
ClinVar RCV Id: RCV000348938 RCV001336940 RCV000596106 RCV003418076 RCV001824136
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Arg669His
CA3853359
NM_170724.3:c.2006G>A