ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826162780
Gene: DNM2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
158513
ClinVar RCV Id:
RCV000145901
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001177645.1:p.Val375Glu
CA172095
NM_001190716.1:c.1124T>A