ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA236294
Gene: KCNH2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000171410
RCV001852069
ClinVar Variation:
191223
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Asp580His
CA005317
NM_172056.2:c.1738G>C