ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825356671
Gene: SCN2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
375506
ClinVar RCV Id:
RCV000417035
RCV002521495
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035232.1:p.Met1548Thr
CA16044310
NM_001040142.2:c.4643T>C