ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826012786
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
201531
ClinVar RCV:
RCV001229261
RCV001311216
ClinVar Variation:
206797
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159436.1:p.Asp1046Asn
CA317351
NM_001165964.3:c.3136G>A