ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA108053
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67980
ClinVar RCV Id:
RCV000058766
RCV000183198
RCV000620629
RCV000660252
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932173.1:p.Ile1768Val
CA019094
NM_198056.3:c.5302A>G