ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825459661
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1947628
ClinVar RCV Id:
RCV002685537
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073271.1:p.His56Asn
CA294886642
NM_001079803.3:c.166C>A