ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825098509
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000433548
RCV001851049
RCV002379315
ClinVar Variation:
379687
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000229.1:p.Gly246Cys
CA16605738
NM_000238.4:c.736G>T