ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827776644
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
12890
ClinVar RCV Id:
RCV000032605
RCV000794577
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340883.1:p.Leu974Phe
CA281911
NM_001353954.2:c.2920C>T