ClinGen Allele Registry
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Canonical Allele Identifier:
PA915989791
Gene: TBXAS1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000413403
ClinVar Variation:
372893
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159725.2:p.Asp344_Ile345del
CA16042663
NM_001166253.4:c.1031_1036del