ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA317147
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000188839
RCV002517009
ClinVar Variation:
206744
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008851.3:p.Arg219Thr
CA317144
NM_006920.6:c.656G>C