ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827476756
Gene: SCN11A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2931610
ClinVar RCV Id:
RCV003792632
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336182.1:p.Met1674Val
CA352161697
NM_001349253.2:c.5020A>G