ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827763747
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000413776
RCV001328664
ClinVar Variation:
372865
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340879.1:p.Val421Met
CA16042397
NM_001353950.2:c.1261G>A