ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA218712
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_000229.1:p.Arg1055Gln
CA008062
NM_000238.4:c.3164G>A