ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830085465
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000282438
RCV000295771
RCV000372382
RCV000725624
RCV001859614
ClinVar Variation:
285304
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149062.2:p.Glu4048Lys
CA4056406
NM_033071.5:c.12142G>A