ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741896083
Gene: SCN7A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002967.2:p.Val1596Leu
CA1944980
NM_002976.4:c.4786G>C