ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827775993
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
418475
ClinVar RCV Id:
RCV000486171
RCV003766659
RCV003989533
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340883.1:p.Arg499Trp
CA1943296
NM_001353954.2:c.1495C>T