ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828475556
Gene: SCN2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2947980
ClinVar RCV Id:
RCV003806802
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358176.1:p.Ile1254Phe
CA349027985
NM_001371247.1:c.3760A>T