ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826606742
Gene: TUBA4A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
180187
ClinVar RCV Id:
RCV000157039
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265481.1:p.Thr130Pro
CA185905
NM_001278552.2:c.388A>C