ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830068421
Gene: TBXAS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
288232
ClinVar RCV Id:
RCV000399934
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_112246.3:p.Arg60Leu
CA10606012
NM_030984.6:c.179G>T