ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573314592
Gene: SCN1B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1487496
ClinVar RCV Id:
RCV002033565
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_950238.1:p.Gly216Ser
CA405329550
NM_199037.5:c.646G>A