ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825481172
Gene: SCN3A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
521063
ClinVar RCV Id:
RCV000622981
RCV000625714
RCV003992349
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001075146.1:p.Val1720Ala
CA349016016
NM_001081677.2:c.5159T>C