ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827779634
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
201537
ClinVar RCV:
RCV000188905
RCV001317116
ClinVar Variation:
206794
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340884.1:p.Ala977Val
CA317339
NM_001353955.2:c.2930C>T