ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828916002
Gene: DES
HGNC
NCBI
Linked Data
ClinVar Variation Id:
16832
ClinVar RCV Id:
RCV000056771
RCV001316353
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001369639.1:p.Asn343del
CA217012
NM_001382710.1:c.1028_1030del