ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825942274
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_001153632.1:p.Leu1575Arg
CA352143150
NM_001160160.2:c.4724T>G