ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826013220
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68628
ClinVar RCV Id:
RCV000059506
RCV001381481
RCV001719807
RCV003989315
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159436.1:p.Val1338Ile
CA266114
NM_001165964.3:c.4012G>A