ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830312578
Gene: VPS13B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2086154
ClinVar RCV Id:
RCV002996554
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689777.3:p.Pro8Ala
CA371856021
NM_152564.5:c.22C>G