ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830399918
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448598
ClinVar RCV Id:
RCV000517761
RCV000878962
RCV002060265
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_892006.3:p.Ala1158Val
CA4058838
NM_182961.4:c.3473C>T