ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825461223
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1487632
ClinVar RCV Id:
RCV002008714
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073271.1:p.His395Leu
CA8815193
NM_001079803.3:c.1184A>T