ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA304848
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000058060
RCV000181830
ClinVar Variation:
67341
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000229.1:p.Met645Val
CA006050
NM_000238.4:c.1933A>G