ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2499237194
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1067893
ClinVar RCV Id:
RCV001379276
RCV002223308
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073272.1:p.Met519Val
CA401367186
NM_001079804.3:c.1555A>G