ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825940782
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2774478
ClinVar RCV Id:
RCV003592360
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153632.1:p.Thr594Ile
CA352146184
NM_001160160.2:c.1781C>T