ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827762093
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
530419
ClinVar RCV Id:
RCV000636278
RCV001089689
RCV001706692
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340878.1:p.Ala1927Val
CA59797796
NM_001353949.2:c.5780C>T