ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2742029198
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2887462
ClinVar RCV Id:
RCV003722379
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932173.1:p.Gly605Glu
CA352146052
NM_198056.3:c.1814G>A