ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658807334
Gene: SCN11A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
541583
ClinVar RCV Id:
RCV000651888
RCV002343375
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_054858.2:p.Ile1739Val
CA2321374
NM_014139.3:c.5215A>G