ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580524238
Gene: VPS13B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1926147
ClinVar RCV Id:
RCV002605066
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689777.3:p.Ala983Asp
CA371865594
NM_152564.5:c.2948C>A