ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830087349
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
288953
ClinVar RCV Id:
RCV000270647
RCV000317960
RCV000373083
RCV000726255
RCV001435359
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149062.2:p.Thr6150Ile
CA4054896
NM_033071.5:c.18449C>T