ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826260225
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
362323
ClinVar RCV:
RCV000417022
ClinVar Variation:
375515
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001189364.1:p.Asn1605Ile
CA16044312
NM_001202435.3:c.4814A>T