ClinGen Allele Registry
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Canonical Allele Identifier:
PA645442366
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000467908
RCV001591065
RCV002339124
RCV003224285
ClinVar Variation:
405352
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Asp119His
CA039187
NM_172056.2:c.355G>C