ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825098719
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000456992
RCV000619671
RCV001841347
RCV003328583
ClinVar Variation:
405343
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000229.1:p.Arg397Cys
CA16612122
NM_000238.4:c.1189C>T