ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830089693
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
538392
ClinVar RCV Id:
RCV000647632
RCV000713648
RCV004544876
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149062.2:p.His8360Arg
CA4052897
NM_033071.5:c.25079A>G