ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830401189
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
283203
ClinVar RCV Id:
RCV000713685
RCV001151976
RCV001213813
RCV001151975
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_892006.3:p.Leu2349Phe
CA4057926
NM_182961.4:c.7045C>T