ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA113677
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
972746
ClinVar RCV Id:
RCV001248865
RCV001780189
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Pro522Ser
CA294895008
NM_000152.5:c.1564C>T