ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825460693
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
956209
ClinVar RCV Id:
RCV001228970
RCV001751444
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073271.1:p.Leu291Phe
CA8815079
NM_001079803.3:c.871C>T