ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827765754
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
194721
ClinVar RCV Id:
RCV000188914
RCV000515245
RCV000724750
RCV001444749
RCV001132318
RCV002336423
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340879.1:p.Ala1150Thr
CA240854
NM_001353950.2:c.3448G>A