ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827923468
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1011689
ClinVar RCV Id:
RCV001309526
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341630.1:p.Leu1547Gln
CA1358563253
NM_001354701.2:c.4640_4641delinsAA