ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305049
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
200475
ClinVar RCV Id:
RCV000181878
RCV001088454
RCV002433792
RCV001842830
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000229.1:p.Leu889Val
CA007102
NM_000238.4:c.2665T>G