ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828360724
Gene: SCN8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2443599
ClinVar RCV Id:
RCV003152206
RCV003588873
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356717.1:p.Met751Thr
CA384879964
NM_001369788.1:c.2252T>C