Canonical Allele Identifier: PA2580510141
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1714463
ClinVar RCV Id: RCV002304376
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Val2076Ile
CA364439698
NM_170724.3:c.6226G>A