ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827759568
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_001340878.1:p.Tyr1263Cys
CA349054188
NM_001353949.2:c.3788A>G