ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826511052
Gene: TUBA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
625483
ClinVar RCV Id:
RCV000767428
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001257329.1:p.Leu251Phe
CA384639114
NM_001270400.1:c.751C>T