ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA201109
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000174640
RCV000321230
RCV000710252
RCV000987801
RCV001081859
RCV002516637
ClinVar Variation:
194303
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_892006.3:p.Leu8318Phe
CA201107
NM_182961.4:c.24952C>T