Canonical Allele Identifier: PA916059875
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 96431
ClinVar RCV Id: RCV000082581 RCV000473573 RCV000659055 RCV001844807 RCV001507100 RCV003935071
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Gly2782Ala
CA224098
NM_170724.3:c.8345G>C