ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825491117
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
859644
ClinVar RCV Id:
RCV002505644
RCV003768971
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092874.1:p.Asp1790Asn
CA064352
NM_001099404.2:c.5368G>A