ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828360950
Gene: SCN8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2435762
ClinVar RCV Id:
RCV003136512
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356717.1:p.Ala1051Pro
CA384892712
NM_001369788.1:c.3151G>C