ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573101266
Gene: SCN1B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1311951
ClinVar RCV Id:
RCV001761172
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_950238.1:p.Glu82del
CA2580613105
NM_199037.5:c.246_248del