ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830070849
Gene: CAPNS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3137212
ClinVar RCV Id:
RCV004427044
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_115706.1:p.Ala18Val
CA395939590
NM_032330.3:c.53C>T