ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3057511864
Gene: SCN8A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV005111822
ClinVar Variation:
3635215
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055006.1:p.Leu1819Ile
CA384886333
NM_014191.4:c.5455C>A