ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825481186
Gene: SCN3A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000227630
RCV004541440
ClinVar Variation:
240713
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001075146.1:p.Asp1754Asn
CA1938411
NM_001081677.2:c.5260G>A