ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2573097275
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
196189
ClinVar RCV Id:
RCV000704237
RCV000724438
RCV001156268
RCV001156269
RCV004537420
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149062.2:p.Glu1186Ala
CA243061
NM_033071.5:c.3557A>C