ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573296870
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1676047
ClinVar RCV Id:
RCV002214416
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149062.2:p.Lys3216Glu
CA366138244
NM_033071.5:c.9646A>G