ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827771107
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000781833
RCV001054959
ClinVar Variation:
633407
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340880.1:p.Pro1312Leu
CA349053029
NM_001353951.2:c.3935C>T