ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830421942
Gene: SYNE2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000318970
RCV000397520
RCV004021141
ClinVar Variation:
283703
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_878914.1:p.Glu257Lys
CA7224783
NM_182910.2:c.769G>A