ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827790671
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
206867
ClinVar RCV Id:
RCV000189005
RCV000714534
RCV000714535
RCV003128153
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340890.1:p.Ala1020Val
CA317613
NM_001353961.2:c.3059C>T