ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA107767
Gene: SCN5A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000058593
RCV000678843
RCV001256851
RCV001842345
RCV002504973
RCV003162458
ClinVar Variation:
67818
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932173.1:p.Glu1240Gln
CA017461
NM_198056.3:c.3718G>C