ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826013775
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000441570
RCV002522649
ClinVar Variation:
391762
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159436.1:p.Ala1657Ser
CA1942700
NM_001165964.3:c.4969G>T