ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826012604
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000428224
RCV000794021
ClinVar Variation:
381569
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159436.1:p.Ser912Phe
CA16604035
NM_001165964.3:c.2735C>T