Canonical Allele Identifier: PA916059521
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 377269
ClinVar RCV Id: RCV000440845 RCV001004198 RCV001775118
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Gly1971Asp
CA3852378
NM_170724.3:c.5912G>A