ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825132564
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1215136
ClinVar RCV Id:
RCV001583962
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000326.2:p.Phe1854Ser
CA352140834
NM_000335.5:c.5561T>C