ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA304725
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67229
ClinVar RCV Id:
RCV000057939
RCV000181805
RCV000619406
RCV001390277
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Ala221Thr
CA005019
NM_172057.3:c.661G>A