ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA329089
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67329
ClinVar RCV Id:
RCV000058048
RCV000691309
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Glu637Lys
CA005952
NM_172056.2:c.1909G>A