ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827785430
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000487225
RCV000636316
ClinVar Variation:
422367
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340887.1:p.Gln882Arg
CA16617303
NM_001353958.2:c.2645A>G