ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA265683
Gene: SCN5A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000058710
RCV000987240
RCV001699194
RCV002336213
ClinVar Variation:
67927
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000326.2:p.Glu161Lys
CA018588
NM_000335.5:c.481G>A