Canonical Allele Identifier: PA2830256301
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 989990
ClinVar RCV Id: RCV001277908
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Ala1635Val
CA364430704
NM_138694.3:c.4904C>T