ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827780588
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000059430
RCV001339387
RCV001781396
ClinVar Variation:
68556
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340884.1:p.Val1618Met
CA284988
NM_001353955.2:c.4852G>A