ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825461712
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1713810
ClinVar RCV Id:
RCV002295595
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073271.1:p.Phe490Cys
CA401366893
NM_001079803.3:c.1469T>G