ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573097470
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
288741
ClinVar RCV Id:
RCV000263062
RCV000871135
RCV001705430
RCV004543119
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149062.2:p.Ser2485Cys
CA4057820
NM_033071.5:c.7454C>G