ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093030
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
14432
ClinVar RCV Id:
RCV000015513
RCV000631649
RCV000058123
RCV002426506
RCV003591634
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000229.1:p.Ser818Leu
CA006763
NM_000238.4:c.2453C>T