ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827789899
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_001340889.1:p.Leu1810Val
CA303429
NM_001353960.2:c.5428C>G