ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830086039
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
282314
ClinVar RCV Id:
RCV000326789
RCV000875093
RCV004543002
RCV001288818
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149062.2:p.Arg4670Cys
CA4056044
NM_033071.5:c.14008C>T