ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA100452
Gene: DES
HGNC
NCBI
Linked Data
ClinVar Variation Id:
16824
ClinVar RCV Id:
RCV000018318
RCV000056787
RCV000698481
RCV002265561
RCV004018640
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001918.3:p.Ile451Met
CA257644
NM_001927.4:c.1353C>G