Canonical Allele Identifier: PA094508
Gene: SCN2A HGNC NCBI
ClinVar Allele:
362319
ClinVar RCV:
RCV000416998
ClinVar Variation:
375505
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001035232.1:p.Met1323Val
CA16044308
NM_001040142.2:c.3967A>G