ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827779991
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
93647
ClinVar RCV Id:
RCV000079579
RCV003753084
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340884.1:p.Ala1261Pro
CA221583
NM_001353955.2:c.3781G>C