ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827776047
Gene: SCN1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340883.1:p.Tyr544Asp
CA349069088
NM_001353954.2:c.1630T>G