ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830340046
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
925151
ClinVar RCV Id:
RCV001227728
RCV001840974
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Arg451Gln
CA031734
NM_172057.3:c.1352G>A