ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499277969
Gene: SCN8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1199238
ClinVar RCV Id:
RCV001563670
RCV001859401
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055006.1:p.His774Tyr
CA384880122
NM_014191.4:c.2320C>T