ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA329430
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000058187
RCV001230350
RCV002433560
ClinVar Variation:
67459
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000229.1:p.Arg100Trp
CA007747
NM_000238.4:c.298C>T