ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830087122
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
199227
ClinVar RCV Id:
RCV000261210
RCV000297752
RCV000542124
RCV000710246
RCV001252117
RCV003317130
RCV004537517
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149062.2:p.Ser5872Pro
CA248323
NM_033071.5:c.17614T>C