ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827292529
Gene: SCN8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1098394
ClinVar RCV Id:
RCV001420313
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317189.1:p.Ile1637Met
CA384880496
NM_001330260.2:c.4911T>G