Canonical Allele Identifier: PA2742015294
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3061360
ClinVar RCV Id: RCV003983368
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Ser95Phe
CA3853971
NM_170724.3:c.284C>T