ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827766261
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2002938
ClinVar RCV Id:
RCV002833103
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340879.1:p.Leu1298Pro
CA349053255
NM_001353950.2:c.3893T>C