ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825129531
Gene: SCN5A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
2935206
ClinVar RCV:
RCV003592360
ClinVar Variation:
2774478
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000326.2:p.Thr594Ile
CA352146184
NM_000335.5:c.1781C>T