ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139746416
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
933401
ClinVar RCV Id:
RCV001201606
RCV002497688
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Pro53Leu
CA027297
NM_172057.3:c.158C>T