ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827762128
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
451274
ClinVar RCV Id:
RCV000523033
RCV002525199
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340878.1:p.[Asn1941Ile;Leu1943del]
CA658657091
NM_001353949.2:c.5822_5824del