ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573306416
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1472758
ClinVar RCV Id:
RCV001977218
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Glu91Val
CA369865390
NM_172056.2:c.272A>T