ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825944049
Gene: SCN5A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001842185
ClinVar Variation:
1332147
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153633.1:p.Ala735Gly
CA352144545
NM_001160161.2:c.2204C>G