ClinGen Allele Registry
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Canonical Allele Identifier:
PA256595
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
27924
ClinVar RCV:
RCV000013745
RCV000059409
RCV003992150
ClinVar Variation:
12885
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008851.3:p.Val1342Leu
CA256593
NM_006920.6:c.4024G>C