ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826275451
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
14433
ClinVar RCV Id:
RCV000015514
RCV000058108
RCV000208497
RCV001262685
RCV001841245
RCV001851875
RCV002223758
RCV003162252
RCV004549372
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001191727.1:p.Arg444Trp
CA006462
NM_001204798.2:c.1330C>T