ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658805866
Gene: SCN2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
521077
ClinVar RCV Id:
RCV000623688
RCV001265506
RCV002531892
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066287.2:p.Ala1245Val
CA1940167
NM_021007.3:c.3734C>T