ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827779434
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
12883
ClinVar RCV Id:
RCV000013743
RCV000059471
RCV000686817
RCV001253103
RCV001311218
RCV002316193
RCV004554602
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340884.1:p.Thr863Met
CA256587
NM_001353955.2:c.2588C>T