ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825460871
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1413723
ClinVar RCV Id:
RCV001928267
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073271.1:p.Ser332Leu
CA8815125
NM_001079803.3:c.995C>T