Canonical Allele Identifier: PA2580510386
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2081358
ClinVar RCV Id: RCV002994225
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Ile3177Val
CA3851380
NM_170724.3:c.9529A>G