ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916036364
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000180852
ClinVar Variation:
189900
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340877.1:p.Trp738Leu
CA303250
NM_001353948.2:c.2213G>T