Canonical Allele Identifier: PA916059890
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 197958
ClinVar RCV Id: RCV000336528 RCV000790749 RCV003474935
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Met2804Lys
CA246375
NM_170724.3:c.8411T>A