ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827783862
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001195896
RCV001863098
ClinVar Variation:
930321
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340886.1:p.Tyr1753His
CA349068092
NM_001353957.2:c.5257T>C