ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA304639
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
200340
ClinVar RCV Id:
RCV000181790
RCV003335180
RCV003532021
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Arg472Pro
CA004589
NM_172056.2:c.1415G>C