ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645506502
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
229236
ClinVar RCV Id:
RCV000219261
RCV000766281
RCV002354612
RCV002500715
RCV001842985
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932173.1:p.Ala2002Thr
CA10576613
NM_198056.3:c.6004G>A