ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830090028
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2436544
ClinVar RCV Id:
RCV003138880
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149062.2:p.Pro8747Leu
CA366088426
NM_033071.5:c.26240C>T