ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827402230
Gene: SYNE1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001334630.1:p.Arg744Trp
CA4052785
NM_001347701.2:c.2230C>T