ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826259976
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000180797
RCV002517630
ClinVar Variation:
189843
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001189364.1:p.Pro1451Thr
CA303087
NM_001202435.3:c.4351C>A