ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825129522
Gene: SCN5A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
393587
ClinVar RCV:
RCV000463581
RCV001841356
ClinVar Variation:
406436
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000326.2:p.Lys590Gln
CA16611286
NM_000335.5:c.1768A>C