ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827777645
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68641
ClinVar RCV Id:
RCV000059520
RCV003233101
RCV003588572
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340883.1:p.Arg1636Cys
CA285189
NM_001353954.2:c.4906C>T