ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA272886
Gene: KCNH2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000058225
RCV000148529
RCV000226122
RCV002453374
RCV002498336
RCV003591664
ClinVar Variation:
67496
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Val115Met
CA008314
NM_172056.2:c.343G>A