ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA092183
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
29777
ClinVar RCV Id:
RCV000058010
RCV000022643
RCV000254785
RCV000462085
RCV002408476
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000229.1:p.Ala614Val
CA005654
NM_000238.4:c.1841C>T