ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305143
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67469
ClinVar RCV Id:
RCV000058197
RCV000454975
RCV000795860
RCV001548137
RCV001841742
RCV002477190
RCV004019014
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Gly696Asp
CA007960
NM_172057.3:c.2087G>A