ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2741891132
Gene: DES
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2935423
ClinVar RCV Id:
RCV003791077
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001918.3:p.Asp365His
CA350694143
NM_001927.4:c.1093G>C