ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658674271
Gene: DES
HGNC
NCBI
Linked Data
ClinVar Variation Id:
474286
ClinVar RCV Id:
RCV000534573
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001918.3:p.Ser438Ala
CA350698434
NM_001927.4:c.1312T>G