ClinGen Allele Registry
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Canonical Allele Identifier:
PA305048
Gene: KCNH2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
197192
ClinVar RCV:
RCV000181878
RCV001088454
RCV001842830
RCV002433792
ClinVar Variation:
200475
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Leu549Val
CA007102
NM_172057.3:c.1645T>G