ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA247918
Gene: SYNE2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
198975
ClinVar RCV Id:
RCV000180443
RCV001088614
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_878918.2:p.Ala5399Thr
CA247917
NM_182914.2:c.16195G>A