ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA236746
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
191470
ClinVar RCV Id:
RCV000171663
RCV000412673
RCV000618660
RCV001085306
RCV000988001
RCV001842517
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000229.1:p.Arg892Cys
CA007118
NM_000238.4:c.2674C>T