ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825462862
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2139777
ClinVar RCV Id:
RCV003052773
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073271.1:p.Leu756Phe
CA401324824
NM_001079803.3:c.2266C>T