ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA304487
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
200254
ClinVar RCV Id:
RCV001842813
RCV001852289
RCV002319451
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Leu687Ile
CA007884
NM_172057.3:c.2059C>A