ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825065409
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1942847
ClinVar RCV Id:
RCV002647006
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Val321Phe
CA401364382
NM_000152.5:c.961G>T