ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA304615
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67174
ClinVar RCV Id:
RCV000057881
RCV000181786
RCV003531951
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Ala422Thr
CA004358
NM_172056.2:c.1264G>A