ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827780284
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000413422
RCV000692374
ClinVar Variation:
372966
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340884.1:p.Ala1429Thr
CA16042433
NM_001353955.2:c.4285G>A