ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827758404
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000180827
ClinVar Variation:
189874
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340878.1:p.Gln899Lys
CA303174
NM_001353949.2:c.2695C>A