ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499241650
Gene: TUBA8
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV001587612
ClinVar Variation:
1211134
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001180343.1:p.Gly77Trp
CA10093678
NM_001193414.2:c.229G>T