ClinGen Allele Registry
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Canonical Allele Identifier:
PA329126
Gene: KCNH2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
78233
ClinVar RCV:
RCV000058056
RCV000803218
ClinVar Variation:
67337
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Ser641Phe
CA006035
NM_172056.2:c.1922C>T