ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916061729
Gene: SCN1B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
436652
ClinVar RCV Id:
RCV000503065
RCV000815939
RCV001764493
RCV002476008
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_950238.1:p.Arg45Cys
CA9371961
NM_199037.5:c.133C>T