ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA100476
Gene: DES
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000056773
RCV001043598
ClinVar Variation:
66393
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001918.3:p.Leu370Pro
CA217018
NM_001927.4:c.1109T>C