ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827780126
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
12885
ClinVar RCV Id:
RCV000013745
RCV000059409
RCV003992150
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340884.1:p.Val1341Leu
CA256593
NM_001353955.2:c.4021G>C