ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827921476
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1171203
ClinVar RCV Id:
RCV001842064
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341630.1:p.Ile201Val
CA72948509
NM_001354701.2:c.601A>G