ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826258167
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
956579
ClinVar RCV Id:
RCV001229412
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001189364.1:p.Ala201Val
CA349075239
NM_001202435.3:c.602C>T