ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825944836
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
216840
ClinVar RCV Id:
RCV001729452
RCV003765289
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153633.1:p.Arg1262Leu
CA062580
NM_001160161.2:c.3785G>T