Canonical Allele Identifier: PA916059320
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 458597
ClinVar RCV Id: RCV000529518 RCV000733218 RCV003476228
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Ser1400Leu
CA3852760
NM_170724.3:c.4199C>T