ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830089556
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
194303
ClinVar RCV Id:
RCV000174640
RCV000321230
RCV000710252
RCV001081859
RCV000987801
RCV002516637
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149062.2:p.Leu8247Phe
CA201107
NM_033071.5:c.24739C>T