ClinGen Allele Registry
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Canonical Allele Identifier:
PA303385
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
187800
ClinVar RCV:
RCV000180902
RCV001531324
ClinVar Variation:
189949
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008851.3:p.Ser861Tyr
CA303383
NM_006920.6:c.2582C>A