ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825065452
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1026318
ClinVar RCV Id:
RCV001326749
RCV003145575
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Asp338Tyr
CA401364575
NM_000152.5:c.1012G>T