ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830089750
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
586730
ClinVar RCV Id:
RCV000713652
RCV001868332
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149062.2:p.Glu8431Lys
CA150165450
NM_033071.5:c.25291G>A