ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830401189
Gene: SYNE1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_892006.3:p.Leu2349Phe
CA4057926
NM_182961.4:c.7045C>T