ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA218697
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67454
ClinVar RCV Id:
RCV000058181
RCV000621297
RCV001002378
RCV001086448
RCV001841734
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000229.1:p.Ser981Gly
CA007666
NM_000238.4:c.2941A>G