ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA329380
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67418
ClinVar RCV Id:
RCV000058143
RCV001701488
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Leu87Pro
CA007042
NM_172056.2:c.260T>C