ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645415940
Gene: SCN1B
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000417192
ClinVar Variation:
375687
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_950238.1:p.Ile106Phe
CA405328764
NM_199037.5:c.316A>T