ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3057548575
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV005236098
ClinVar Variation:
3767577
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008851.3:p.Ala1772Gly
CA349068055
NM_006920.6:c.5315C>G