ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645486310
Gene: SYNE2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
313493
ClinVar RCV Id:
RCV000383389
RCV000993222
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_878918.2:p.Gln732Lys
CA7219634
NM_182914.2:c.2194C>A