ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827775194
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68671
ClinVar RCV Id:
RCV000059551
RCV000416094
RCV000537890
RCV000764283
RCV002247465
RCV004019071
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340881.1:p.Glu1946Gly
CA213190
NM_001353952.2:c.5837A>G