ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827753307
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000557695
ClinVar Variation:
461269
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340877.1:p.Ala1370Val
CA349050422
NM_001353948.2:c.4109C>T