ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826130693
Gene: SCN8A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000023031
RCV001230237
RCV003992161
ClinVar Variation:
30123
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171455.1:p.Asn1727Asp
CA128948
NM_001177984.2:c.5179A>G