ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830086493
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448557
ClinVar RCV Id:
RCV000518616
RCV001065562
RCV001153759
RCV001153758
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149062.2:p.Arg5232Trp
CA4055665
NM_033071.5:c.15694C>T