Canonical Allele Identifier: PA2830400489
Gene: SYNE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 282318
ClinVar RCV Id: RCV000725066 RCV001153467 RCV001153468 RCV002518848
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_892006.3:p.Met1683Ile
CA4058389
NM_182961.4:c.5049G>T
CA366139476
NM_182961.4:c.5049G>C
CA366139478
NM_182961.4:c.5049G>A