ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827775495
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2720425
ClinVar RCV Id:
RCV003590813
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340883.1:p.Thr184Ala
CA1943491
NM_001353954.2:c.550A>G