ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827774335
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
189843
ClinVar RCV Id:
RCV000180797
RCV002517630
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340881.1:p.Pro1440Thr
CA303087
NM_001353952.2:c.4318C>A