ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA144972
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67381
ClinVar RCV Id:
RCV000058102
RCV001031014
RCV002514287
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Met416Val
CA006412
NM_172057.3:c.1246A>G