ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825496553
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
919932
ClinVar RCV Id:
RCV001566400
RCV002339446
RCV001842729
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092875.1:p.Ser1591Leu
CA063800
NM_001099405.2:c.4772C>T