ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA095472
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_150648.2:p.Ile90Lys
CA253246
NM_033305.3:c.269T>A