ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915997494
Gene: TUBA8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
160173
ClinVar RCV Id:
RCV000147828
RCV000714141
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001180343.1:p.Ala62Val
CA173769
NM_001193414.2:c.185C>T