ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828916942
Gene: DES
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002027221
RCV002486738
RCV003146490
ClinVar Variation:
1517261
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001369641.1:p.Ala360Ser
CA350694040
NM_001382712.1:c.1078G>T