ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305230
Gene: KCNH2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000181936
RCV002516850
ClinVar Variation:
200564
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Pro72Ser
CA006286
NM_172056.2:c.214C>T