ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828213112
Gene: TBXAS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
196309
ClinVar RCV Id:
RCV000177112
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001353467.1:p.Glu65Lys
CA243208
NM_001366538.2:c.193G>A