ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825942347
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67942
ClinVar RCV Id:
RCV000058727
RCV000183091
RCV001842373
RCV004019056
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153632.1:p.Thr1612Met
CA018766
NM_001160160.2:c.4835C>T