ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830089000
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
194148
ClinVar RCV Id:
RCV000174437
RCV000871390
RCV001697204
RCV002517677
RCV004539613
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149062.2:p.Ala7756Gly
CA239987
NM_033071.5:c.23267C>G