ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826275173
Gene: KCNH2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
224343
ClinVar RCV:
RCV000208076
RCV000845366
ClinVar Variation:
222668
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001191727.1:p.Val285Ala
CA353893
NM_001204798.2:c.854T>C