ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830085351
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000332061
RCV000382243
RCV000733867
RCV001364560
ClinVar Variation:
355884
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149062.2:p.Ala3948Glu
CA4056523
NM_033071.5:c.11843C>A