ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830339441
Gene: KCNH2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000487402
ClinVar Variation:
418245
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Ile267Phe
CA16618409
NM_172057.3:c.799A>T