ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827774736
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_001340881.1:p.Ala1674Ser
CA1942700
NM_001353952.2:c.5020G>T