ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499277987
Gene: SCN8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1176943
ClinVar RCV Id:
RCV001532693
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055006.1:p.Ala1046Asp
CA384892646
NM_014191.4:c.3137C>A