ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826028171
Gene: TBXAS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1695387
ClinVar RCV Id:
RCV002264889
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159726.1:p.His220Tyr
CA369584039
NM_001166254.4:c.658C>T