ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA915964132
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
526535
ClinVar RCV Id:
RCV000631080
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073272.1:p.Leu32del
CA628018663
NM_001079804.3:c.93_95del