ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827779598
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
189992
ClinVar RCV Id:
RCV000180948
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340884.1:p.Cys956Phe
CA303499
NM_001353955.2:c.2867G>T