Canonical Allele Identifier: PA915989791
Gene: TBXAS1 HGNC NCBI
ClinVar Allele:
359766
ClinVar RCV:
RCV000413403
ClinVar Variation:
372893
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001159725.2:p.Asp344_Ile345del
CA16042663
NM_001166253.4:c.1031_1036del