ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA329130
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67338
ClinVar RCV Id:
RCV000058057
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Cys64Trp
CA006038
NM_172056.2:c.192C>G