ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580135632
Gene: SYNE4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2279227
ClinVar RCV Id:
RCV004135543
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001034965.1:p.Glu274Lys
CA9393843
NM_001039876.3:c.820G>A