ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827790337
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000059485
RCV000817420
RCV002247464
ClinVar Variation:
68608
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340890.1:p.Met146Val
CA285108
NM_001353961.2:c.436A>G