ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827402071
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
212341
ClinVar RCV Id:
RCV000193297
RCV000346757
RCV000291749
RCV000951589
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001334630.1:p.Arg474Gln
CA206679
NM_001347701.2:c.1421G>A