ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825219244
Gene: AGL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1499472
ClinVar RCV Id:
RCV002010687
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000633.2:p.Val1248Ile
CA341337540
NM_000642.3:c.3742G>A