ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827778871
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1056951
ClinVar RCV Id:
RCV001365856
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340884.1:p.Met400Thr
CA349070998
NM_001353955.2:c.1199T>C