ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA307652
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000058667
RCV000183071
ClinVar Variation:
67887
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092874.1:p.Ser1458Tyr
CA018188
NM_001099404.2:c.4373C>A