ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139740444
Gene: SCN1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340877.1:p.Leu988Arg
CA349060603
NM_001353948.2:c.2963T>G