ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827475696
Gene: SCN11A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000480155
ClinVar Variation:
422331
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336182.1:p.Val573Met
CA16617961
NM_001349253.2:c.1717G>A