ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA915964441
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
225114
ClinVar RCV Id:
RCV000797884
RCV003488466
RCV004017497
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073272.1:p.Pro285Arg
CA358045
NM_001079804.3:c.854C>G