ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA094412
Gene: SCN2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1686160
ClinVar RCV Id:
RCV002250327
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035232.1:p.Asn212Asp
CA349017397
NM_001040142.2:c.634A>G