Canonical Allele Identifier: PA224102
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 96433
ClinVar RCV Id: RCV000179136 RCV001854440
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Cys2803Tyr
CA224101
NM_138694.3:c.8408G>A