ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825942478
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
191499
ClinVar RCV Id:
RCV000171697
RCV000855502
RCV001842522
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153632.1:p.Ser1705Phe
CA018989
NM_001160160.2:c.5114C>T