ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580157059
Gene: AGA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1705159
ClinVar RCV Id:
RCV002281789
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165459.1:p.Ser131Leu
CA358783517
NM_001171988.2:c.392C>T