ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830317149
Gene: VPS13B
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689777.3:p.Tyr3111Phe
CA4824687
NM_152564.5:c.9332A>T