ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825480459
Gene: SCN3A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
194080
ClinVar RCV Id:
RCV000174357
RCV000858470
RCV004537364
RCV002517674
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001075146.1:p.Ser540Phe
CA239880
NM_001081677.2:c.1619C>T