ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580370301
Gene: SCN8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1723004
ClinVar RCV Id:
RCV002306111
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055006.1:p.Tyr305Cys
CA385226819
NM_014191.4:c.914A>G