ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305427
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67309
ClinVar RCV Id:
RCV000058027
RCV002513755
ClinVar Variation Id:
67310
ClinVar RCV Id:
RCV000058028
ClinVar Variation Id:
200747
ClinVar RCV Id:
RCV000182034
RCV001385333
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Phe287Leu
CA005780
NM_172057.3:c.859T>C
CA005788
NM_172057.3:c.861C>A
CA005797
NM_172057.3:c.861C>G