ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825065541
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
966297
ClinVar RCV Id:
RCV001240945
RCV003132328
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Ser379Tyr
CA294892232
NM_000152.5:c.1136C>A