ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825495048
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
201565
ClinVar RCV Id:
RCV000183159
RCV002321727
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092875.1:p.Glu1064del
CA016894
NM_001099405.2:c.3190_3192del