ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA113164
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
188806
ClinVar RCV Id:
RCV000169139
RCV000727645
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Glu262Lys
CA273984
NM_000152.5:c.784G>A