ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825940313
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1015741
ClinVar RCV Id:
RCV003770662
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153632.1:p.Thr285Ile
CA352150510
NM_001160160.2:c.854C>T