ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826511142
Gene: TUBA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
427202
ClinVar RCV Id:
RCV000488967
RCV000767440
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001257329.1:p.Ala348Asp
CA384635354
NM_001270400.1:c.1043C>A