ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825462514
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
424308
ClinVar RCV Id:
RCV000485701
RCV000548878
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073271.1:p.Pro690Leu
CA8815606
NM_001079803.3:c.2069C>T