ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916025086
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_001308534.1:p.Ile73Phe
CA405328764
NM_001321605.1:c.217A>T