ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827768306
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
189965
ClinVar RCV Id:
RCV000180919
RCV003480074
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340879.1:p.Leu1828Val
CA303429
NM_001353950.2:c.5482C>G