ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305370
Gene: KCNH2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
197255
ClinVar RCV:
RCV000182024
ClinVar Variation:
200730
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Gly601Asp
CA005538
NM_172056.2:c.1802G>A