ClinGen Allele Registry
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Canonical Allele Identifier:
PA3057525308
Gene: SCN5A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
3850749
ClinVar RCV:
RCV005195882
ClinVar Variation:
3723538
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092875.1:p.Lys591Glu
CA352146235
NM_001099405.2:c.1771A>G