ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913192464
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_006000.2:p.Leu286Phe
CA384639114
NM_006009.4:c.856C>T