ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825943041
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000058412
RCV001842274
RCV003298118
RCV003319178
RCV003654189
ClinVar Variation:
67654
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153633.1:p.Arg43Gln
CA014665
NM_001160161.2:c.128G>A