ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830087855
Gene: SYNE1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149062.2:p.Thr6593Ile
CA4054532
NM_033071.5:c.19778C>T