ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829369939
Gene: KCNH1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000149912
ClinVar Variation:
162522
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002229.1:p.Gln476Arg
CA215049
NM_002238.4:c.1427A>G