ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830315310
Gene: VPS13B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
427100
ClinVar RCV Id:
RCV000489122
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689777.3:p.Ser1787Ile
CA371872385
NM_152564.5:c.5360G>T