ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827774058
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
530477
ClinVar RCV Id:
RCV000636357
RCV001788307
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340881.1:p.Leu1285Met
CA349053526
NM_001353952.2:c.3853T>A