ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827782967
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
593636
ClinVar RCV Id:
RCV000728735
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340886.1:p.Tyr1246Cys
CA349054188
NM_001353957.2:c.3737A>G