ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741839988
Gene: TUBA8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2964591
ClinVar RCV Id:
RCV003828213
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001180343.1:p.Gly96Ser
CA410263070
NM_001193414.2:c.286G>A