ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645402900
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000443388
ClinVar Variation:
393038
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008851.3:p.Asn357Tyr
CA16603944
NM_006920.6:c.1069A>T