ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA302181
Gene: SCN1B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
190874
ClinVar RCV Id:
RCV000171054
RCV000646745
RCV002354422
RCV002478539
RCV004535162
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001028.1:p.Ala197Val
CA302180
NM_001037.5:c.590C>T