ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825492936
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67639
ClinVar RCV Id:
RCV000058396
RCV000182960
RCV000617435
RCV001842271
RCV002498339
RCV003457639
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092875.1:p.Arg376His
CA014389
NM_001099405.2:c.1127G>A