ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645449148
Gene: SCN8A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000489752
ClinVar Variation:
427069
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055006.1:p.Val842Glu
CA384884736
NM_014191.4:c.2525T>A