ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825099337
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
651422
ClinVar RCV Id:
RCV000806782
RCV002442695
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000229.1:p.Pro1018Leu
CA169072005
NM_000238.4:c.3053C>T