ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA218752
Gene: KCNH2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Arg181Gln
CA008563
NM_172056.2:c.542G>A