ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA211510
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67504
ClinVar RCV Id:
RCV000058233
RCV000148539
RCV000181756
RCV000620293
RCV000853031
RCV000988005
RCV001841759
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000229.1:p.Pro141Leu
CA008431
NM_000238.4:c.422C>T