ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829675279
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000307557
RCV002521885
RCV003362741
ClinVar Variation:
282593
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008851.3:p.Val876Met
CA1943061
NM_006920.6:c.2626G>A