ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827292250
Gene: SCN8A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000144156
ClinVar Variation:
156108
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317189.1:p.Asn1466Thr
CA170759
NM_001330260.2:c.4397A>C