ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA108539
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_932173.1:p.Thr1645Met
CA018766
NM_198056.3:c.4934C>T