Canonical Allele Identifier: PA2830256286
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2857987
ClinVar RCV Id: RCV003613470
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Cys1613Phe
CA364431089
NM_138694.3:c.4838G>T