Canonical Allele Identifier: PA916059360
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 501696
ClinVar RCV Id: RCV000592486 RCV001400967
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Ala1484Thr
CA3852720
NM_170724.3:c.4450G>A