ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645406970
Gene: SCN2A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000436956
RCV001042388
RCV001848747
RCV001848748
RCV002267611
RCV002281573
RCV002319492
RCV003155938
RCV003441147
ClinVar Variation:
378927
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066287.2:p.Val261Met
CA16604008
NM_021007.3:c.781G>A