ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA243062
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000704237
RCV000724438
RCV001156268
RCV001156269
RCV004537420
ClinVar Variation:
196189
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_892006.3:p.Glu1179Ala
CA243061
NM_182961.4:c.3536A>C