ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580162918
Gene: TUBA8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1960402
ClinVar RCV Id:
RCV002706463
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001180343.1:p.Leu66Pro
CA410262714
NM_001193414.2:c.197T>C