ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA107786
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67927
ClinVar RCV Id:
RCV000058710
RCV000987240
RCV001699194
RCV002336213
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932173.1:p.Glu161Lys
CA018588
NM_198056.3:c.481G>A