ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825459646
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
456382
ClinVar RCV Id:
RCV000548222
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073271.1:p.Glu50Lys
CA401360339
NM_001079803.3:c.148G>A