ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830400989
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
285723
ClinVar RCV Id:
RCV000312982
RCV001081234
RCV004543068
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_892006.3:p.Ser2162Cys
CA4058061
NM_182961.4:c.6484A>T