ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827402097
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
284137
ClinVar RCV Id:
RCV000319118
RCV000373820
RCV000725395
RCV001079883
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001334630.1:p.Arg521Gln
CA4053040
NM_001347701.2:c.1562G>A