ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA307243
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67648
ClinVar RCV Id:
RCV000058405
RCV000182963
RCV004545744
ClinVar Variation Id:
67649
ClinVar RCV Id:
RCV000058406
RCV001256848
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092874.1:p.Asn406Lys
CA014532
NM_001099404.2:c.1218C>A
CA014540
NM_001099404.2:c.1218C>G