ClinGen Allele Registry
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Canonical Allele Identifier:
PA144985
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67444
ClinVar RCV Id:
RCV000058171
RCV000181898
RCV000588938
RCV000685653
RCV001841728
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Arg614Cys
CA007528
NM_172057.3:c.1840C>T