ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827402539
Gene: SYNE1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001334631.1:p.Ala431Gly
CA240210
NM_001347702.2:c.1292C>G