ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826260016
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000180931
RCV002516539
ClinVar Variation:
189976
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001189364.1:p.Ser1471Phe
CA303462
NM_001202435.3:c.4412C>T