ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA304732
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67232
ClinVar RCV Id:
RCV000057943
RCV000544355
RCV002399422
RCV002468562
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.His562Arg
CA005065
NM_172056.2:c.1685A>G