ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA199961
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
36429
ClinVar RCV Id:
RCV000058202
RCV000171814
RCV000172896
RCV000203011
RCV000243613
RCV000401763
RCV000517346
RCV001841531
RCV004549392
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000229.1:p.Arg1047Leu
CA008041
NM_000238.4:c.3140G>T