ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827292917
Gene: SCN8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1750018
ClinVar RCV Id:
RCV002353285
RCV003389906
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317189.1:p.Tyr1947Cys
CA384889830
NM_001330260.2:c.5840A>G