ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA100550
Gene: DES
HGNC
NCBI
Linked Data
ClinVar Variation Id:
66404
ClinVar RCV Id:
RCV000056792
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001918.3:p.Ser460Ile
CA217051
NM_001927.4:c.1379G>T