ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573255964
Gene: SCN8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1371411
ClinVar RCV Id:
RCV001864533
RCV002551646
RCV002482580
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055006.1:p.Ala1046Thr
CA6571550
NM_014191.4:c.3136G>A