ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825460337
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
290223
ClinVar RCV Id:
RCV000287222
RCV000631099
RCV001705433
RCV003930185
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073271.1:p.Val222Met
CA8814957
NM_001079803.3:c.664G>A