ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826275180
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000058027
RCV000058028
RCV000182034
RCV001385333
RCV002513755
ClinVar Variation:
67309
67310
200747
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001191727.1:p.Phe287Leu
CA005780
NM_001204798.2:c.859T>C
CA005788
NM_001204798.2:c.861C>A
CA005797
NM_001204798.2:c.861C>G