Canonical Allele Identifier: PA2499299874
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1067981
ClinVar RCV Id: RCV001379393
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.His3124Arg
CA3851397
NM_170724.3:c.9371A>G