ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825461782
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1965577
ClinVar RCV Id:
RCV002711208
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073271.1:p.Arg527Gly
CA401367241
NM_001079803.3:c.1579A>G