ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA218666
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000058145
RCV000181737
RCV001069901
RCV001841712
RCV004019006
ClinVar Variation:
67420
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Thr535Met
CA007057
NM_172057.3:c.1604C>T