ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825098415
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1424899
ClinVar RCV Id:
RCV001957282
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000229.1:p.Ala188_Ala190dup
CA2573141819
NM_000238.4:c.562_570dup