ClinGen Allele Registry
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Canonical Allele Identifier:
PA329997
Gene: SCN5A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
78705
ClinVar RCV:
RCV000058585
RCV001262491
RCV001731355
RCV001842341
RCV004019048
ClinVar Variation:
67810
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000326.2:p.Glu1224Lys
CA017399
NM_000335.5:c.3670G>A