ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827774503
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
546140
ClinVar RCV Id:
RCV000657975
RCV002536319
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340881.1:p.Ile1540Phe
CA349072227
NM_001353952.2:c.4618A>T