ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827770856
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000188914
RCV000515245
RCV000724750
RCV001132318
RCV001444749
RCV002336423
ClinVar Variation:
194721
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340880.1:p.Ala1150Thr
CA240854
NM_001353951.2:c.3448G>A