ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827778372
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68615
ClinVar RCV Id:
RCV000059492
RCV000433130
RCV001854244
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340884.1:p.Thr112Ile
CA285126
NM_001353955.2:c.335C>T