ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826275057
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
191223
ClinVar RCV Id:
RCV000171410
RCV001852069
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001191727.1:p.Asp240His
CA005317
NM_001204798.2:c.718G>C