ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826510529
Gene: TUBA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1349068
ClinVar RCV Id:
RCV002050974
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001257328.1:p.Thr253Lys
CA384640000
NM_001270399.2:c.758C>A