ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826762336
Gene: VPS33B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
499523
ClinVar RCV Id:
RCV000597264
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001276078.1:p.Ser471Ile
CA393884772
NM_001289149.1:c.1412G>T