ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825490521
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1992327
ClinVar RCV Id:
RCV002776543
RCV003591972
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092874.1:p.Val1597Ala
CA72942393
NM_001099404.2:c.4790T>C