ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826510441
Gene: TUBA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2438431
ClinVar RCV Id:
RCV003139183
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001257328.1:p.Glu183Lys
CA384641834
NM_001270399.2:c.547G>A