ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830088621
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
282179
ClinVar RCV Id:
RCV000303479
RCV000360607
RCV001055549
RCV000725044
RCV004021101
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149062.2:p.Arg7364Cys
CA4053914
NM_033071.5:c.22090C>T