ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA248360
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
199251
ClinVar RCV Id:
RCV000180773
RCV001237930
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_892006.3:p.Glu6243Lys
CA248358
NM_182961.4:c.18727G>A