ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830421985
Gene: SYNE2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_878914.1:p.Ser330Leu
CA7224861
NM_182910.2:c.989C>T