ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830400558
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448604
ClinVar RCV Id:
RCV000516561
RCV000726600
RCV001078470
RCV004541624
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_892006.3:p.Gln1761Arg
CA4058318
NM_182961.4:c.5282A>G