ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA329542
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67516
ClinVar RCV Id:
RCV000058245
RCV000690929
RCV000786144
RCV002483101
RCV003298115
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000229.1:p.Met218Val
CA008645
NM_000238.4:c.652A>G