ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825939948
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
463358
ClinVar RCV Id:
RCV000786216
RCV004545786
RCV003591749
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153632.1:p.Arg27Cys
CA056855
NM_001160160.2:c.79C>T