ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA304655
Gene: KCNH2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
197277
ClinVar RCV:
RCV000181793
RCV000223922
RCV002390455
RCV003532022
ClinVar Variation:
200346
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Leu159Arg
CA004714
NM_172057.3:c.476T>G