ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828475577
Gene: SCN2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1699603
ClinVar RCV Id:
RCV002273460
RCV003096160
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358176.1:p.Val1268Glu
CA1940174
NM_001371247.1:c.3803T>A