ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827775369
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
189899
ClinVar RCV Id:
RCV000180851
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340883.1:p.Ser103Ile
CA303246
NM_001353954.2:c.308G>T