ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA328809
Gene: KCNH2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000057979
RCV001854197
RCV002280098
ClinVar Variation:
67266
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Asn248Asp
CA005415
NM_172057.3:c.742A>G