ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825538222
Gene: SCN5A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000458183
ClinVar Variation:
403732
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092874.1:p.Leu729del
CA16609849
NM_001099404.2:c.2184_2186del