ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499277727
Gene: SCN11A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
999954
ClinVar RCV Id:
RCV001296021
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_054858.2:p.Gln1756Glu
CA352159453
NM_014139.3:c.5266C>G