ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830085895
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
355874
ClinVar RCV Id:
RCV000347777
RCV000517050
RCV000407531
RCV000766931
RCV001086972
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149062.2:p.Cys4504Phe
CA4056131
NM_033071.5:c.13511G>T