Canonical Allele Identifier: PA916059392
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 598091
ClinVar RCV Id: RCV000734398 RCV000866712 RCV001731915 RCV001796201 RCV003965549
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Thr1615Met
CA3852659
NM_170724.3:c.4844C>T