ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829182717
Gene: TUBB8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
223143
ClinVar RCV Id:
RCV000208753
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001376547.1:p.Ser104Leu
CA354173
NM_001389618.1:c.311C>T