ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829675971
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000472521
ClinVar Variation:
408936
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008851.3:p.Leu1412Val
CA16610151
NM_006920.6:c.4234C>G