ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827777304
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1739737
ClinVar RCV Id:
RCV002332074
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340883.1:p.Asp1431His
CA349049553
NM_001353954.2:c.4291G>C