ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA218760
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67512
ClinVar RCV Id:
RCV000058241
RCV000532958
RCV000780360
RCV000765946
RCV002345368
RCV004549487
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Ala190Thr
CA008604
NM_172056.2:c.568G>A