Canonical Allele Identifier: PA916059007
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 290977
ClinVar RCV Id: RCV000288236 RCV000317551 RCV001844826 RCV002509355 RCV003469249
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Ile757Leu
CA3853291
NM_170724.3:c.2269A>C