ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826260553
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000176636
RCV001852177
ClinVar Variation:
195946
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001189364.1:p.Asn1779Asp
CA242664
NM_001202435.3:c.5335A>G