ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658813595
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
527096
ClinVar RCV Id:
RCV000712083
RCV001078600
RCV002360513
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Ala233Ser
CA040247
NM_172056.2:c.697G>T