ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA318283
Gene: SCN8A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV004566611
RCV004566612
RCV004566613
RCV004566614
ClinVar Variation:
3238817
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055006.1:p.Met1481Lys
CA318282
NM_014191.4:c.4442T>A