ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580370663
Gene: SCN8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1713496
ClinVar RCV Id:
RCV002295509
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055006.1:p.Thr1703Ala
CA384883383
NM_014191.4:c.5107A>G