ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827768345
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000414318
ClinVar Variation:
372740
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340879.1:p.Pro1844Leu
CA16042429
NM_001353950.2:c.5531C>T