ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA213278
Gene: TUBA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
160163
ClinVar RCV Id:
RCV000147817
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006000.2:p.Thr253Arg
CA213277
NM_006009.4:c.758C>G