ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916074119
Gene: TUBA3E
HGNC
NCBI
Linked Data
ClinVar Variation Id:
183299
ClinVar RCV Id:
RCV000162120
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_997195.2:p.Arg215Cys
CA249924
NM_207312.3:c.643C>T