ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825945383
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67947
ClinVar RCV Id:
RCV000058732
RCV000183093
RCV000618797
RCV002054906
RCV003996548
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153633.1:p.Ile1606Val
CA018806
NM_001160161.2:c.4816A>G