ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573271604
Gene: TUBA8
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV001997448
ClinVar Variation:
1449243
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_061816.1:p.Thr94Ala
CA10093634
NM_018943.3:c.280A>G