ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826090494
Gene: AAAS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
309726
ClinVar RCV Id:
RCV000314857
RCV002056317
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166937.1:p.Arg401Gln
CA6598892
NM_001173466.2:c.1202G>A