ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827786928
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000180919
RCV003480074
ClinVar Variation:
189965
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340887.1:p.Leu1811Val
CA303429
NM_001353958.2:c.5431C>G