ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827771018
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2861060
ClinVar RCV Id:
RCV003752614
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340880.1:p.Ile1253Thr
CA349054333
NM_001353951.2:c.3758T>C