ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827774735
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68648
ClinVar RCV Id:
RCV000059528
RCV001854246
RCV003992176
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340881.1:p.Ala1674Val
CA266120
NM_001353952.2:c.5021C>T