ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825537408
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1171341
ClinVar RCV Id:
RCV001842080
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092874.1:p.Arg27Leu
CA056875
NM_001099404.2:c.80G>T