ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827780154
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68628
ClinVar RCV Id:
RCV000059506
RCV001381481
RCV001719807
RCV003989315
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340884.1:p.Val1354Ile
CA266114
NM_001353955.2:c.4060G>A