ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139700245
Gene: TUBA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
864864
ClinVar RCV Id:
RCV001072147
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006000.2:p.Cys200Arg
CA384641487
NM_006009.4:c.598T>C