ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA113019
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
657348
ClinVar RCV Id:
RCV000813939
RCV001563037
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Asp404Asn
CA8815234
NM_000152.5:c.1210G>A