ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825352548
Gene: SCN1B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2562704
ClinVar RCV Id:
RCV003296697
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001028.1:p.Val77Met
CA9371992
NM_001037.5:c.229G>A