ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA328932
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67292
ClinVar RCV Id:
RCV000058009
RCV000244892
RCV000223761
RCV000527495
RCV001196417
RCV001258357
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Thr613Met
CA005647
NM_172056.2:c.1838C>T