ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA107327
Gene: SCN5A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000058588
RCV000144030
RCV000183042
RCV001842342
RCV002345369
ClinVar Variation:
67813
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932173.1:p.Arg1232Trp
CA017416
NM_198056.3:c.3694C>T