ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830400093
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
283246
ClinVar RCV Id:
RCV000306134
RCV000541201
RCV001152386
RCV004535295
RCV001152385
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_892006.3:p.Glu1312Lys
CA4058711
NM_182961.4:c.3934G>A