ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825442777
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3065656
ClinVar RCV Id:
RCV003990733
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073272.1:p.Asn520Ile
CA401367198
NM_001079804.3:c.1559A>T