Allele Registry

Canonical Allele Identifier: PA2826090334

Gene: AAAS HGNC NCBI

ClinVar Allele:

20084

ClinVar RCV:

RCV000005348

RCV000311283

RCV000415076

RCV000624696

ClinVar Variation:

5045

HGVS (amino-acid)	Matching Registered Transcripts
NP_001166937.1:p.Ser230Pro	CA117228 NM_001173466.2:c.688T>C