ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825129670
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1043347
ClinVar RCV Id:
RCV003656907
RCV004036519
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000326.2:p.Cys649Arg
CA059318
NM_000335.5:c.1945T>C