ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573097522
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
282295
ClinVar RCV Id:
RCV000360507
RCV000530905
RCV000725061
RCV004543001
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149062.2:p.Thr2794Met
CA4057566
NM_033071.5:c.8381C>T