ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830087874
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
212340
ClinVar RCV Id:
RCV000195255
RCV000554123
RCV001288032
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149062.2:p.Arg6605Gln
CA209940
NM_033071.5:c.19814G>A