ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830422345
Gene: SYNE2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
283703
ClinVar RCV Id:
RCV000318970
RCV000397520
RCV004021141
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_878917.1:p.Glu383Lys
CA7224783
NM_182913.2:c.1147G>A