ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827069314
Gene: SCN1B
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308534.1:p.Arg52Cys
CA302153
NM_001321605.1:c.154C>T