ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825942714
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
201542
ClinVar RCV Id:
RCV000183129
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153632.1:p.Glu1843Lys
CA019400
NM_001160160.2:c.5527G>A