Allele Registry

Canonical Allele Identifier: PA2826090396

Gene: AAAS HGNC NCBI

ClinVar Allele:

198632

ClinVar RCV:

RCV000184015

ClinVar Variation:

202169

HGVS (amino-acid)	Matching Registered Transcripts
NP_001166937.1:p.Val280Ala	CA203842 NM_001173466.2:c.839T>C