ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826260867
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
660951
ClinVar RCV Id:
RCV000818256
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001189364.1:p.His1997Arg
CA349063024
NM_001202435.3:c.5990A>G