ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825131030
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
463328
ClinVar RCV Id:
RCV003654430
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000326.2:p.Glu1229Lys
CA062201
NM_000335.5:c.3685G>A