ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA328943
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67294
ClinVar RCV Id:
RCV000058012
RCV001577623
RCV001854199
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Leu615Phe
CA005667
NM_172056.2:c.1843C>T