ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825538037
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2084315
ClinVar RCV Id:
RCV003658471
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092874.1:p.Ser560Leu
CA352146756
NM_001099404.2:c.1679C>T