ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825098764
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448973
ClinVar RCV Id:
RCV000528889
RCV000522527
RCV001841407
RCV002225643
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000229.1:p.Ala448Ser
CA027793
NM_000238.4:c.1342G>T