ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA144982
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_000229.1:p.Thr895Met
CA007147
NM_000238.4:c.2684C>T