ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828917028
Gene: DES
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2440746
ClinVar RCV Id:
RCV003146047
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001369641.1:p.Ile448Val
CA350698634
NM_001382712.1:c.1342A>G