ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA285017
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68568
ClinVar RCV Id:
RCV000059443
RCV000693267
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008851.3:p.Ser1762Phe
CA285015
NM_006920.6:c.5285C>T