ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA106836
Gene: TUBA4A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
180185
ClinVar RCV Id:
RCV000157037
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005991.1:p.Arg215Cys
CA185903
NM_006000.3:c.643C>T