ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305233
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67368
ClinVar RCV Id:
RCV000058088
RCV000463612
RCV000588659
RCV000786141
RCV001258077
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Pro72Gln
CA006293
NM_172056.2:c.215C>A