ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573271593
Gene: TUBA8
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV001952028
ClinVar Variation:
1418256
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_061816.1:p.Ala19Val
CA10093572
NM_018943.3:c.56C>T