ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825099515
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
456931
ClinVar RCV Id:
RCV000555194
RCV001841446
RCV002456056
RCV001570323
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000229.1:p.Leu1150Met
CA039050
NM_000238.4:c.3448C>A