ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825493536
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
201576
ClinVar RCV Id:
RCV000183172
RCV000656205
RCV001842935
RCV002408802
RCV002492820
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092875.1:p.Arg569Gly
CA015193
NM_001099405.2:c.1705C>G