ClinGen Allele Registry
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Canonical Allele Identifier:
PA317353
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_008851.3:p.Asp1063Asn
CA317351
NM_006920.6:c.3187G>A