ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830339569
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1303526
ClinVar RCV Id:
RCV001762984
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Ser296Leu
CA369857865
NM_172057.3:c.887C>T