ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829675679
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1475150
ClinVar RCV Id:
RCV001973907
RCV003136396
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008851.3:p.Phe1215Val
CA349055801
NM_006920.6:c.3643T>G