ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826010513
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000487743
RCV001328670
RCV001385358
ClinVar Variation:
425224
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159435.1:p.Ala1510Val
CA16621765
NM_001165963.4:c.4529C>T