ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825132706
Gene: SCN5A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
239194
ClinVar RCV:
RCV003539869
ClinVar Variation:
242205
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000326.2:p.Gln1917Arg
CA10582186
NM_000335.5:c.5750A>G