ClinGen Allele Registry
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Canonical Allele Identifier:
PA330244
Gene: SCN5A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
78879
ClinVar RCV:
RCV000058774
RCV003542281
ClinVar Variation:
67987
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092874.1:p.Leu1786Gln
CA019153
NM_001099404.2:c.5357T>A