ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825490351
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
950649
ClinVar RCV Id:
RCV001841188
RCV003656588
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092874.1:p.Ala1529Asp
CA352144070
NM_001099404.2:c.4586C>A