ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA259640
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_742054.1:p.Ala274Val
CA005654
NM_172057.3:c.821C>T