ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828470424
Gene: SCN2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
948341
ClinVar RCV Id:
RCV001219575
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358175.1:p.Lys120Ile
CA349011856
NM_001371246.1:c.359A>T