ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827921494
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68039
ClinVar RCV Id:
RCV000058842
RCV000182946
RCV001842411
RCV003162462
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341630.1:p.Val240Met
CA019765
NM_001354701.2:c.718G>A