ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825945240
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1045161
ClinVar RCV Id:
RCV003656913
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153633.1:p.Val1523Ile
CA352143746
NM_001160161.2:c.4567G>A