Canonical Allele Identifier: PA174860
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 161826
ClinVar RCV Id: RCV000149362 RCV000707171 RCV003242990
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Ala182Thr
CA174858
NM_170724.3:c.544G>A