ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828474965
Gene: SCN2A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000013738
RCV000189121
RCV000527590
RCV003224096
ClinVar Variation:
12878
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358176.1:p.Val892Ile
CA122770
NM_001371247.1:c.2674G>A