ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826606746
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_001265481.1:p.Arg200Cys
CA185903
NM_001278552.2:c.598C>T