ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580555539
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1743377
ClinVar RCV Id:
RCV002330764
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932173.1:p.Leu1608Arg
CA352143150
NM_198056.3:c.4823T>G