ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826183295
Gene: TUBA8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
425280
ClinVar RCV Id:
RCV000488379
RCV000503144
RCV000765606
RCV002475957
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001180343.1:p.Val257Met
CA10093799
NM_001193414.2:c.769G>A