ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA143107
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
48306
ClinVar RCV Id:
RCV000041626
RCV000058779
RCV000766749
RCV001841609
RCV002345328
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932173.1:p.Arg18Gln
CA019208
NM_198056.3:c.53G>A