ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825098479
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1163878
ClinVar RCV Id:
RCV001509331
RCV002564283
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000229.1:p.Arg232_Ala233del
CA2499218807
NM_000238.4:c.695_700del