ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827069328
Gene: SCN1B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9255
ClinVar RCV Id:
RCV000009837
RCV003332078
RCV003988820
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308534.1:p.Glu54Gln
CA120244
NM_001321605.1:c.160G>C