ClinGen Allele Registry
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Canonical Allele Identifier:
PA234871
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
167646
ClinVar RCV Id:
RCV000471353
RCV000515440
RCV000710209
RCV002408682
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008851.3:p.Arg580Gln
CA234868
NM_006920.6:c.1739G>A