ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829810330
Gene: SYNE2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
193774
ClinVar RCV Id:
RCV000173938
RCV001114656
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055995.4:p.Arg6214Lys
CA239416
NM_015180.5:c.18641G>A