ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305060
Gene: KCNH2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000181882
RCV001842831
RCV002516849
ClinVar Variation:
200480
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Lys557Met
CA007169
NM_172057.3:c.1670A>T