ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825360130
Gene: SCN2A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
362321
ClinVar RCV:
RCV000417035
RCV002521495
ClinVar Variation:
375506
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035233.1:p.Met1548Thr
CA16044310
NM_001040143.2:c.4643T>C