ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139726848
Gene: VPS33B
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_061138.3:p.Arg389Trp
CA7744771
NM_018668.5:c.1165C>T