ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825323718
Gene: VPS13A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4682
ClinVar RCV Id:
RCV000004946
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001018048.1:p.Ile90Lys
CA253246
NM_001018038.3:c.269T>A