ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA245030
Gene: SYNE1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_892006.3:p.Ala1701Ser
NM_182961.4:c.5101G>T