ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA218744
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67505
ClinVar RCV Id:
RCV000058234
RCV000148528
RCV000223902
RCV000618143
RCV000988004
RCV001256843
RCV001841760
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000229.1:p.Arg148Trp
CA008448
NM_000238.4:c.442C>T