ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645477926
Gene: TUBA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
418531
ClinVar RCV Id:
RCV000483973
RCV000767411
RCV001257007
RCV001805098
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006000.2:p.Arg390Cys
CA16619548
NM_006009.4:c.1168C>T