ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827476840
Gene: SCN11A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
938736
ClinVar RCV Id:
RCV001208014
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336182.1:p.Arg1745Gln
CA2321366
NM_001349253.2:c.5234G>A