ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830086087
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
288302
ClinVar RCV Id:
RCV000264553
RCV000312820
RCV000360305
RCV001087844
RCV002254920
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149062.2:p.Tyr4747Asn
CA4056002
NM_033071.5:c.14239T>A