ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827780896
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003754165
ClinVar Variation:
2813384
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340884.1:p.Ile1770Val
CA349068080
NM_001353955.2:c.5308A>G