ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828472051
Gene: SCN2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
29886
ClinVar RCV Id:
RCV000189138
RCV000118248
RCV000022767
RCV000806278
RCV001847619
RCV002319425
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358175.1:p.Glu1211Lys
CA128708
NM_001371246.1:c.3631G>A