ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830089617
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
995003
ClinVar RCV Id:
RCV001288827
RCV003770461
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149062.2:p.Arg8288Gln
CA4052976
NM_033071.5:c.24863G>A