ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2573176633
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1389866
ClinVar RCV Id:
RCV001889399
RCV003146309
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073272.1:p.Met391Val
CA8815190
NM_001079804.3:c.1171A>G