ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825941931
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67855
ClinVar RCV Id:
RCV000058634
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153632.1:p.Ile1349Thr
CA017817
NM_001160160.2:c.4046T>C