ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658674453
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
456404
ClinVar RCV Id:
RCV000559933
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Ala820del
CA628018650
NM_000152.5:c.2459_2461del