ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825359520
Gene: SCN2A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
405352
ClinVar RCV:
RCV000479012
ClinVar Variation:
422520
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035233.1:p.Val1215Phe
CA16617268
NM_001040143.2:c.3643G>T