ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826028175
Gene: TBXAS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
372893
ClinVar RCV Id:
RCV000413403
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159726.1:p.Asp231_Ile232del
CA16042663
NM_001166254.4:c.692_697del