ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA330032
Gene: SCN5A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
78736
ClinVar RCV:
RCV000058622
RCV003556153
ClinVar Variation:
67843
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092874.1:p.Ala1330Pro
CA017704
NM_001099404.2:c.3988G>C