ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA217095
Gene: DES
HGNC
NCBI
Linked Data
ClinVar Variation Id:
66423
ClinVar RCV Id:
RCV000056814
RCV000171830
RCV000466593
RCV000735983
RCV001143228
RCV001142372
RCV003352761
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001918.3:p.Ser298Leu
CA217093
NM_001927.4:c.893C>T