ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825395560
Gene: TBXAS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1984235
ClinVar RCV Id:
RCV002800213
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001052.3:p.Gly293Asp
CA4511837
NM_001061.7:c.878G>A