ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827921249
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67670
ClinVar RCV Id:
RCV000058433
RCV001582556
RCV001842286
RCV003162454
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341630.1:p.Arg53Gln
CA015041
NM_001354701.2:c.158G>A