ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA257231
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
14424
ClinVar RCV Id:
RCV000015505
RCV000254122
RCV000806677
RCV000058125
RCV000509399
RCV001544763
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Val482Met
CA006796
NM_172057.3:c.1444G>A