ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827291116
Gene: SCN8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1494824
ClinVar RCV Id:
RCV001989612
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317189.1:p.Gly472Asp
CA6571257
NM_001330260.2:c.1415G>A