ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830402229
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
290182
ClinVar RCV Id:
RCV001079193
RCV000713696
RCV004537607
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_892006.3:p.Val3219Ile
CA4057251
NM_182961.4:c.9655G>A