ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA218732
Gene: KCNH2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000058217
RCV001164500
RCV001296616
RCV001841751
RCV004019018
ClinVar Variation:
67488
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000229.1:p.Leu1108Val
CA008187
NM_000238.4:c.3322C>G