Canonical Allele Identifier: PA916059739
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 288719
ClinVar RCV Id: RCV000336713 RCV000528475 RCV001084453 RCV001844822 RCV003940059
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Pro2582Ser
CA3851843
NM_170724.3:c.7744C>T