ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825942631
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
201539
ClinVar RCV Id:
RCV000183124
RCV000477269
RCV001842927
RCV002345636
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153632.1:p.Ala1795Thr
CA019290
NM_001160160.2:c.5383G>A