ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830399907
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000690099
RCV003431061
ClinVar Variation:
448597
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_892006.3:p.Gln1146Glu
CA4058842
NM_182961.4:c.3436C>G