ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830340333
Gene: KCNH2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
522670
ClinVar RCV:
RCV000631708
RCV001841818
RCV002438654
ClinVar Variation:
527012
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Arg572Gln
CA169072692
NM_172057.3:c.1715G>A