ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826259652
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2430162
ClinVar RCV Id:
RCV003128168
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001189364.1:p.Leu1265Met
CA349054328
NM_001202435.3:c.3793C>A