ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828474969
Gene: SCN2A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000417026
RCV000578327
ClinVar Variation:
375508
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358176.1:p.Ala896Val
CA16044307
NM_001371247.1:c.2687C>T