ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658818958
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_061138.3:p.Ser562Ile
CA393884772
NM_018668.5:c.1685G>T