ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573097606
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_149062.2:p.Val3226Ile
CA4057251
NM_033071.5:c.9676G>A