Canonical Allele Identifier: PA916060054
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 458608
ClinVar RCV Id: RCV000780599 RCV000592975 RCV001087159 RCV002527687 RCV003962477
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Val3185Ile
CA3851373
NM_170724.3:c.9553G>A