ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645481578
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
284483
ClinVar RCV Id:
RCV000403362
RCV000815535
RCV000852726
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Gln121Arg
CA8814857
NM_000152.5:c.362A>G