ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827402230
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
281853
ClinVar RCV Id:
RCV000291852
RCV001151233
RCV001151232
RCV002521871
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001334630.1:p.Arg744Trp
CA4052785
NM_001347701.2:c.2230C>T