ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829369944
Gene: KCNH1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000149911
ClinVar Variation:
162521
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002229.1:p.Leu489Phe
CA215047
NM_002238.4:c.1465C>T