ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825460088
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
325778
ClinVar RCV Id:
RCV000309076
RCV000786313
RCV002469130
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073271.1:p.Arg168Gln
CA8814884
NM_001079803.3:c.503G>A