ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827922536
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
201481
ClinVar RCV Id:
RCV000183013
RCV004020201
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341630.1:p.Pro950Ser
CA016569
NM_001354701.2:c.2848C>T