ClinGen Allele Registry
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Canonical Allele Identifier:
PA092313
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000015509
RCV000057970
RCV000181815
RCV000537059
RCV002399326
ClinVar Variation:
14428
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000229.1:p.Arg582Cys
CA005345
NM_000238.4:c.1744C>T