ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830086051
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
198671
ClinVar RCV Id:
RCV000180075
RCV000533703
RCV000316351
RCV000710240
RCV000714610
RCV004537501
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149062.2:p.Leu4684Phe
CA247458
NM_033071.5:c.14050C>T