ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827776682
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
425226
ClinVar RCV Id:
RCV000487912
RCV001448434
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340883.1:p.Tyr1013Phe
CA1943013
NM_001353954.2:c.3038A>T