ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA144981
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67426
ClinVar RCV Id:
RCV000058151
RCV000699702
RCV000988000
RCV001256913
RCV001588890
RCV001841715
RCV004019008
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Thr555Met
CA007147
NM_172057.3:c.1664C>T