Canonical Allele Identifier: PA2830257214
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1255546
ClinVar RCV Id: RCV001844875
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Tyr2105Cys
CA364439216
NM_138694.3:c.6314A>G