ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915986422
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
665186
ClinVar RCV Id:
RCV000823411
RCV001585765
RCV002363173
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008851.3:p.Ser213Leu
CA1943469
NM_006920.6:c.638C>T