ClinGen Allele Registry
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Canonical Allele Identifier:
PA645482751
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000405613
RCV000528735
RCV001200484
RCV003147439
ClinVar Variation:
283143
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_892006.3:p.Thr5828Arg
CA4055224
NM_182961.4:c.17483C>G