ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA330071
Gene: SCN5A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000058673
ClinVar Variation:
67893
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092874.1:p.Gly1481Glu
CA018265
NM_001099404.2:c.4442G>A