ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645415987
Gene: SCN1B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
426270
ClinVar RCV Id:
RCV000490202
RCV003509547
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_950238.1:p.Ala192Ser
CA9372038
NM_199037.5:c.574G>T