ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658660289
Gene: SCN1B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
190858
ClinVar RCV Id:
RCV000171037
RCV000546983
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_950238.1:p.Arg72Cys
CA302151
NM_199037.5:c.214C>T