ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827402624
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1979924
ClinVar RCV Id:
RCV002780123
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001334631.1:p.Cys558Phe
CA366082337
NM_001347702.2:c.1673G>T