ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829675038
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1701394
ClinVar RCV Id:
RCV002276082
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008851.3:p.Thr771Ile
CA349064114
NM_006920.6:c.2312C>T