ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827291845
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_001317189.1:p.Ala1046Thr
CA6571550
NM_001330260.2:c.3136G>A