ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580422295
Gene: VPS35
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060676.2:p.Glu374Lys
CA280214032
NM_018206.6:c.1120G>A