ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827777063
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
663230
ClinVar RCV Id:
RCV000821070
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340883.1:p.Leu1297Val
CA349053265
NM_001353954.2:c.3889C>G