ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825940871
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
191502
ClinVar RCV Id:
RCV000171701
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153632.1:p.Ala647Val
CA015614
NM_001160160.2:c.1940C>T