ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830089559
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
284137
ClinVar RCV Id:
RCV000319118
RCV000373820
RCV000725395
RCV001079883
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149062.2:p.Arg8248Gln
CA4053040
NM_033071.5:c.24743G>A