ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573184142
Gene: TBXAS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1521444
ClinVar RCV Id:
RCV002046303
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159725.2:p.Pro337Ser
CA369584121
NM_001166253.4:c.1009C>T