ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA317125
Gene: SCN1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008851.3:p.Ala104Val
CA317122
NM_006920.6:c.311C>T