ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2573176478
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1470756
ClinVar RCV Id:
RCV001973348
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073272.1:p.Ala97Thr
CA401360617
NM_001079804.3:c.289G>A