Canonical Allele Identifier: PA645507945
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 262382
ClinVar RCV Id: RCV000250925
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Val3444Ala
CA3851098
NM_138694.3:c.10331T>C