Canonical Allele Identifier: PA658807925
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 498158
ClinVar RCV Id: RCV000595378 RCV001034151 RCV003409859 RCV003989565
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Thr3452Ala
CA3851095
NM_138694.3:c.10354A>G