ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830401148
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
285099
ClinVar RCV Id:
RCV000647677
RCV000383754
RCV004535342
RCV001697649
RCV002521930
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_892006.3:p.Ile2316Val
CA4057960
NM_182961.4:c.6946A>G