ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827788884
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2430162
ClinVar RCV Id:
RCV003128168
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340889.1:p.Leu1236Met
CA349054328
NM_001353960.2:c.3706C>A