ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA094493
Gene: SCN2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
12877
ClinVar RCV Id:
RCV000013737
RCV002319421
RCV002513022
RCV000255820
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035232.1:p.Leu1563Val
CA122769
NM_001040142.2:c.4687C>G