ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827780077
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1997561
ClinVar RCV Id:
RCV002791838
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340884.1:p.Leu1315Val
CA349052961
NM_001353955.2:c.3943T>G