ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA211843
Gene: SCN5A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000058840
RCV000148856
RCV000246365
RCV000724673
RCV000987235
RCV001842410
ClinVar Variation:
68037
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000326.2:p.Val232Ile
CA019745
NM_000335.5:c.694G>A