ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827781318
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
958033
ClinVar RCV Id:
RCV001231119
RCV002451545
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340886.1:p.Asn86Ser
CA60270523
NM_001353957.2:c.257A>G