ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827069293
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_001308534.1:p.Val44Met
CA9371992
NM_001321605.1:c.130G>A