ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830086793
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
284474
ClinVar RCV Id:
RCV000321614
RCV000266512
RCV001252119
RCV001331537
RCV001362101
RCV000710244
RCV002518932
RCV004535321
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149062.2:p.Arg5591Cys
CA4055383
NM_033071.5:c.16771C>T