ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827784389
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
12896
ClinVar RCV Id:
RCV000013758
RCV000255880
RCV000993711
RCV003595856
RCV003992153
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340887.1:p.Met145Thr
CA256617
NM_001353958.2:c.434T>C