ClinGen Allele Registry
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Canonical Allele Identifier:
PA218713
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67475
ClinVar RCV Id:
RCV000058204
RCV000181743
RCV000246544
RCV000398697
RCV001841747
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Arg715Gln
CA008062
NM_172057.3:c.2144G>A