ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA092770
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
14423
ClinVar RCV Id:
RCV000015504
RCV000057986
RCV001545123
RCV001851874
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000229.1:p.Ile593Arg
CA005460
NM_000238.4:c.1778T>G