ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA155453
Gene: SYNE1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_149062.1:p.Leu8693Met
NM_033071.3:c.26077C>A