ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827766103
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68621
ClinVar RCV Id:
RCV000059498
RCV003137601
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340879.1:p.Thr1249Pro
CA285141
NM_001353950.2:c.3745A>C