ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827780035
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1505698
ClinVar RCV Id:
RCV001999575
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340884.1:p.Ser1286Thr
CA349053473
NM_001353955.2:c.3857G>C