ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827923563
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67933
ClinVar RCV Id:
RCV000058717
RCV001258376
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341630.1:p.Arg1604Leu
CA018677
NM_001354701.2:c.4811G>T