ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305236
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000058090
RCV000181938
RCV002415514
RCV002513759
ClinVar Variation:
67370
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000229.1:p.Pro72Leu
CA006305
NM_000238.4:c.215C>T