ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827774904
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000471658
ClinVar Variation:
408934
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340881.1:p.Ser1762Tyr
CA16610233
NM_001353952.2:c.5285C>A