ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827789388
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2203176
ClinVar RCV Id:
RCV002664262
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340889.1:p.Met1526Arg
CA349072190
NM_001353960.2:c.4577T>G