ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA304782
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67270
ClinVar RCV Id:
RCV000057985
RCV000181818
RCV004019003
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Ile253Thr
CA005452
NM_172057.3:c.758T>C