ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA213274
Gene: TUBA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
160160
ClinVar RCV Id:
RCV000147814
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006000.2:p.Ile188dup
CA213273
NM_006009.4:c.562_564dup