ClinGen Allele Registry
Allele Registry
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This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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Gene: AAAS
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
ENSP00000457518.1:p.Arg126_Lys359del
CA501042
ENST00000548931.6:c.375_376delinsTT
CA6599073
ENST00000548931.6:c.376C>T