ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305504
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67462
ClinVar RCV Id:
RCV000058190
RCV000182053
RCV001364660
RCV002247459
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Lys101Glu
CA007817
NM_172056.2:c.301A>G