ClinGen Allele Registry
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Canonical Allele Identifier:
PA213193
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000059551
RCV000416094
RCV000537890
RCV000764283
RCV002247465
RCV004019071
ClinVar Variation:
68671
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159435.1:p.Glu1957Gly
CA213190
NM_001165963.4:c.5870A>G