ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826274819
Gene: KCNH2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000522527
RCV000528889
RCV001841407
RCV002225643
ClinVar Variation:
448973
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001191727.1:p.Ala108Ser
CA027793
NM_001204798.2:c.322G>T