Canonical Allele Identifier: PA916058927
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 497603
ClinVar RCV Id: RCV000592067 RCV001163765 RCV003133389 RCV003905514 RCV004024712
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Met638Thr
CA3853396
NM_170724.3:c.1913T>C