ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139755118
Gene: SCN1B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
863442
ClinVar RCV Id:
RCV001070409
RCV003992439
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_950238.1:p.Gln231Leu
CA405329650
NM_199037.5:c.692A>T