ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828473866
Gene: SCN2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
801776
ClinVar RCV Id:
RCV000986850
RCV002283516
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358176.1:p.Val213Ala
CA349017420
NM_001371247.1:c.638T>C