ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827782085
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68589
ClinVar RCV Id:
RCV000059465
RCV000079561
RCV000259883
RCV000434909
RCV000355074
RCV001087094
RCV001132420
RCV002311541
RCV004537266
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340886.1:p.Arg604His
CA285063
NM_001353957.2:c.1811G>A