ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825099160
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
979128
ClinVar RCV Id:
RCV001258195
RCV002451627
RCV003647835
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000229.1:p.Ala778Thr
CA031693
NM_000238.4:c.2332G>A