ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827292659
Gene: SCN8A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
2477530
ClinVar RCV:
RCV003223477
ClinVar Variation:
2499548
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317189.1:p.Ile1762Leu
CA384885184
NM_001330260.2:c.5284A>C