ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA303199
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
189882
ClinVar RCV Id:
RCV000180835
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008851.3:p.Arg935Pro
CA303197
NM_006920.6:c.2804G>C